Le Diko - en:toe-walking gait

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Le Diko - en:toe-walking gait

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le dictionnaire d'associations lexicales
contributif et libre de JeuxDeMots

en:toe-walking gait

Nom

Informations lexicales

Langue:anglais

17

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(petite quantité)

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(surexcitation)

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(trouble de l'âme)

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Associations d'idées

1000

en:prevalence of 1 in 30,000 in northern europe

•

en:most common cancer in men aged 15-40 years

•

en:elevated white cell count in cerebrospinal fluid

•

en:frontal release signs

•

en:generalized cortical atrophy, most prominent in the frontal and parietal lobes

•

en:incidence 1 in 6,000 to 1 in 8,000 live births

•

en:infantile seizures (approximately 80% of patients)

•

en:loss of large myelinated fibers seen on nerve biopsy

•

en:loss of pain and temperature in a cape-like distribution

•

en:malformations of the mid- and hindbrain

•

en:more common in females

•

en:most become wheelchair-bound late in life

•

en:muscle biopsy shows abnormal encasement of presynaptic membrane by schwann cells

•

en:electromyographic decrements in some muscles

•

en:muscle biopsy shows myopathic or dystrophic changes

•

en:muscle cramps affect the upper and lower limbs

•

en:muscle fibers contain internal nuclei

•

en:mutation in nola3 found in 1 consanguineous saudi family (as of may 2011)

•

en:non-progressive or very slowly progressive

•

en:nonspecific myopathic changes seen on biopsy

•

en:normal or increased truncal adipose tissue

•

en:no autistic features

•

en:no lewy bodies

•

en:occipital dermal sinus tract

•

en:onset in childhood (later than in antenatal bartter syndrome 241200)

•

en:electron microscopy shows dense material emanating from the z-disk

•

en:eeg shows slow frequency high amplitude waves with high frequency polyspikes

•

en:phenotype may be influenced by maternal alcohol consumption during pregnancy

•

en:cerebellar atrophy with signal hyperintensity in the cerebellar cortex seen on t2-weighted mri

•

en:positional foot deformity (27%)

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en:pineal gland

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en:claudication

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en:abnormal 'hobby horse' ataxic gait

•

en:absence of some scapular muscles (less common)

•

en:absence of transverse pontine fibers

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en:absent distal and middle phalanges

•

en:affected muscles show atrophy

•

en:associated with a balanced translocation t(12,22)(p11.2,q13.3)

•

en:brisk lower limb reflexes (in some patients)

•

en:cells of origin are part of the diffuse neuroendocrine system (dnes)

•

en:charge acronym (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness, extremity abnormalities)

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en:edema at birth

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en:chronic fatigable muscles

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en:cone-shaped epiphyses (ankles)

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en:contiguous gene deletion syndrome of 5q31

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en:cortical reflex myoclonus

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en:death in childhood often results from respiratory insufficiency

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en:decreased respiratory complex i+iii and ii+iii activity

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en:delayed walking and running in early childhood

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en:denuded postsynaptic regions

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en:developmental delay (in some)

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en:developmental regression in about 50% of patients

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en:die at birth or shortly after birth

•

en:pathogenic alleles contain 71 to 1,300 repeats

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en:posterior fossa compression syndrome

•

en:mut-0 denotes individuals with cultured fibroblast mutase activity that is undetectable secondary to no functional mutase

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en:heterozygous titin mutation causes the less-severe tardive tibial muscular dystrophy (600334)

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en:incidence of 1 in 100,000 to 125,000 at birth

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en:initially normal for first 6-18 months which is then followed by withdrawal and regression

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en:involves upper and lower proximal muscles

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en:later onset associated with milder severity has been reported

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en:lower limb muscle hypotrophy

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en:mean duration of symptoms 4.2 plus or minus 2.4 years

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en:minimal to absent speech

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en:most cases are caused by mutation in the phox2b gene

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en:most patients have no bleeding abnormalities

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en:motor axonal neuropathy

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en:mutant alleles have 47 to 63 repeats

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en:global developmental delay, variable severity

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en:neonatal onset

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en:neurodegeneration in the basal ganglia

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en:neurogenic changes seen on emg and biopsy

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en:neurologic features are variable and not progressive

•

en:normal development until onset of seizures

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en:not all nails are affected in some patients

•

en:only some patients showed neurologic involvement

•

en:onset in second and third decades

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en:proximal lower limb muscle weakness, upper and lower (later onset)

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en:onset usually in the third decade (range 11 to 50 years)

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en:pareses, vocal cord

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en:heterozygous carriers have an increased risk of metabolic dysfunction

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en:onset of weakness in hands and feet

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en:food related behavioral problems include excessive appetite and obsession with eating

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en:carrier females may show mild features, such as mild contractures, club feet, and intellectual disability

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en:extensor plantar responses (early-on)

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en:35% of patients have facial dysmorphism

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en:absence of muscle pseudohypertrophy

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en:adiposis on mri

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en:affected males who survive are secondary to new mutations

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en:anencephaly (1 patient)

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en:at birth, there is generalized red scaly skin

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en:a second family had mild intellectual disability

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en:brain imaging shows diffuse white matter abnormalities

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en:bulbar dysfunction (juvenile-onset, less common)

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en:carrier females have normal funduscopic examinations and normal waveforms on electroretinography.

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en:40% patients have associated abnormalities

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en:decreased delineation of the basal ganglia (in some patients)

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en:decreased endplate potential and amplitudes

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en:decreased nerve amplitudes

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en:developmental regression after onset of seizures

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en:dystrophic changes on biopsy

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en:episodes last 2 days to 1 week

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en:episodes occur 30 minutes to 3 hours after exposure to cold

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en:estimated carrier frequency 1/100

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en:excessive postsurgical blood loss

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en:expressive speech absent

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en:decreased distal sensation (in 1 of 3 patients)

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en:incidence of 1 in 276,000 in the netherlands

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en:infantile form accounts for 90% of cases

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en:incidence of mh in anesthetized adults is 1 in 50,000-100,000

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en:hepatoerythropoietic porphyria (hep, 176100.0005) is a severe infantile form due to homozygous pct

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en:incidence 1/1,200-1/15,000 live births

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en:hyperreflexia proximally

•

en:high mortality in infancy and early childhood (in some patients)

•

en:highly variable phenotype with respect to facial dysmorphism and neurologic features

•

en:heterozygotes may also show increased susceptibility to toxic effects of thiopurine treatment

•

en:loss of myelin in the descending lateral spinal cord tracts

•

en:nonreflex epilepsy may occur later in 16 to 38% of patients

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en:loss of proprioception

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en:loss of subcutaneous fat, particularly affecting the limbs

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en:mental retardation (untreated hypothyroidism)

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en:most common terminal deletion syndrome

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en:neuronal loss in the brainstem

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en:normal early development, up to 8 to 15 months of age

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en:one family with 2 affected fetuses has been reported (as of august 2011)

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en:onset in first decade of life

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en:onset in infancy or early childhood (before age 3 years)

•

en:onset second decade of life

•

en:patients of mexican or amerindian origin have a complicated phenotype with additional neurologic features

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en:head 'tilt' in infancy

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en:hemolysis may be exercise-induced

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en:chiari type i malformation (in some patients)

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en:global developmental delay

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en:autosomal recessive cytochrome b-positive cgd, type i (233700)

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en:phenotypic similarities to leigh syndrome (256000)

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en:musculoskeletal stiffness

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en:abnormal folding of the myelin sheath

•

en:abnormal nerve conduction velocity

•

en:adult onset (range 45 to 70 years)

•

en:agenesis of the corpus callosum (variable)

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en:allelic to wiskott-aldrich syndrome (301000) and severe congenital x-linked neutropenia (300299)

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en:alpha thalassemia-mental retardation syndrome

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en:atrophy of the pons (in some patients)

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en:can be effectively treated with n-carbamylglutamate

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en:excessive neutral fat and free fatty acids in type-i fibers

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en:chronic immune-mediated polyneuropathy

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en:cognitive regression

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en:cysts tend to enlarge with age

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en:death secondary to renal failure, cardiac or cerebrovascular disease

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en:deja vu feeling

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en:deletions in naip gene (600355) found in 18% of sma2 patients

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en:difficulty walking up stairs

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en:distal muscle weakness, predominantly affecting the lower limbs

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en:encephalopathy (in 1 patient)

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en:phenotypic overlap with neurofibromatosis 1 (nf1, 162200)

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en:impaired proprioception

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en:poor feeding (congenital form form)

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en:neuropathology shows alpha-synuclein-containing cytoplasmic inclusions in glial cells

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en:genetic heterogeneity (autosomal recessive form 224900 and autosomal dominant form 129490)

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en:homozygous patients have earlier-onset and more severe disease

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en:initial hypotonia, followed by spasticity

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en:intellectual impairment (rare)

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en:loss of independent ambulation approximately 30 years after onset

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en:majority of cases occur in brazilian population

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en:mean age at diagnosis 16 years (range 6 to 22)

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en:mesoaxial camptodactyly (2nd, 2/3, or 2/3/4 toes)

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en:most patients do not achieve independent sitting or walking

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en:no other neurologic disorder

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en:frontotemporal dementia

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en:onset in the first decade (range birth to 8 years)

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en:onset of cardiac symptoms in adolescence

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en:onset of symptoms between ages 3-8 years of age

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en:onset usually in childhood or adolescence

•

en:onset usually in infancy or early childhood

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en:poor hand-eye coordination

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en:part of 'dent disease complex'

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en:pes cavus in patients with early onset

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en:preaxial polydactyly (rare)

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en:genetic heterogeneity, see (203300)

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en:overriding of the first toe

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en:four patients have been reported from pakistan (as of march 2011)

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en:clinical overlap with demyelinating charcot-marie-tooth disease type 1 (see cmt1b, 118200), but much more severe phenotype

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en:focal dystonia, usually of the hands

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en:progresses through puberty, then stabilizes

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en:absence of the basal ganglia

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en:ataxia in those who survive

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en:body habitus becomes apparent in childhood

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en:central nuclei

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en:cerebral cortical atrophy, diffuse

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en:childhood onset (average 4 to 6 years)

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en:choreodystonia of the upper limbs

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en:clinical onset within first 2 years of life

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en:allelic disorder to branchiootorenal syndrome (bor, 113650) and otofaciocervical syndrome (166780)

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en:cortical dysplasia

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en:enlarged cerebellum

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en:death usually due to respiratory failure

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en:extensor plantar responses (reported in 1 family)

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en:first described in gypsy group from bulgaria

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en:episodic subtype, headaches occur in clusters

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en:disruption in the basal lamina seen on skeletal muscle biopsy

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en:diagnosis occurs between 23 and 33 weeks' gestation

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en:de novo mutation identified in some patients

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en:deformed temporal lobes

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en:decreased cognition (later-onset)

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en:lesions apparent at birth

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en:lissencephaly (anterior to posterior decreasing gradient of severity, more prominent in anterior brain regions)

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en:lymphedema, of upper and/or lower extremity (rare)

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en:mean age at onset is 13 years (range 6 to 43)

•

en:mononeuropathy of the median nerve

•

•

en:muscle weakness (cvs+)

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en:nails may be intermittently involved

•

en:ninety percent of patients with pbg deaminase deficiency are clinically unaffected

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en:occasional degeneration of the globus pallidus

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en:onset around age 2 years

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en:one family has been reported (as of 4/2010)

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en:one family has been reported (as of july 2011)

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en:one male and 3 unrelated females have been reported (last curated october 2013)

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en:one pakistani family has been reported (last curated october 2012)

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en:onset in mid-adulthood

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en:onset of neuromuscular symptoms between 6 months and 1 year of age

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en:overlapping pathologic features with x-linked myopathy with excessive autophagy (xmea, 310440)

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en:peo is not always present

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en:impaired balance

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en:perseveration

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en:inflammatory arthritis may develop in 30% of patients

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en:atrophy of corpus callosum

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en:hypotrophy of type 1 fibers

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en:atrophy, neurogenic muscular

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en:phenotypic overlap with revesz syndrome (268130)

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en:service comment 18:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:service comment 46:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:sclerodactylia

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en:2nd-5th toe middle phalangeal hypoplasia

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en:2 patients described

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en:acute cerebrovascular accidents

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en:allelic disorder to t cell-negative, b cell-negative, nk cell- negative scid (601457), which is more severe

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en:amputation, congenital

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en:atrophy of the small muscles in the hands and feet

•

en:hypotonia (hcs and 2p21del)

•

en:autosomal recessive inheritance with earlier onset has been suggested

•

en:delayed psychomotor development, profound (1 patient)

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en:empty sella syndrome

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en:enlarged ventricles (1 patient)

•

en:estimated carrier frequency in charlevoix-saguenay region is 1/22

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en:food intolerance

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en:four unrelated patients have been reported (last curated august 2014)

•

en:hyaline inclusion

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en:hypnapompic hallucinations

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en:phenotype is worsened by cold temperature

•

en:head oscillations

•

en:posterior fossa cyst

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en:muscle biopsy shows 60-80-nm tubular aggregates arranged in hexagonal arrays in type 2 fibers

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en:hypotonia (in some patients)

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en:infantile spasm

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en:intellectual impairment, mild

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en:interfibrillar and subsarcolemmal vacuoles

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en:jerky head movements

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en:loss of subcutaneous adipose tissue in limbs

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en:marked favorable response to l-dopa treatment

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en:mental retardation, mild to moderate (in 12%)

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en:motor development delay (83%)

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en:muscle fiber splitting and fibrosis seen on muscle biopsy

•

en:four patients from 2 unrelated families have been reported (last curated april 2013)

•

en:onset in early adulthood (average 26 years)

•

en:onset of neurologic symptoms often by 30 months

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en:pachymacrogyria

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en:partial response to pyridoxine

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en:pituitary hypoplasia (in some patients)

•

en:poland syndrome can be associated with moebius syndrome (157900)

•

en:polymicrogyria, frontal

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en:postnatal development of hypertonic extremities

•

en:preponderance of affected females (80%) to males

•

en:progressive spastic diplegia to quadriplegia

•

en:one large consanguineous israeli bedouin kindred has been reported (last curated april 2013)

•

en:first identified in individuals of cypriot origin

•

en:also called 'heterozygous osmed' and 'autosomal dominant osmed'

•

en:eeg abnormalities - slow waking background, intermittent rhythmical slowing (3-5hz), epileptiform discharges

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en:service comment 23:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:heel

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en:abnormal 'cap' on the dorsal pons extending into the fourth ventricle

•

en:absence of vestibular schwannomas at age greater than 18 years

•

en:absent/hypoplastic distal phalanges of feet

•

en:allelic disorder to generalized epilepsy with seizures-plus (gefs+, 604233)

•

en:allelic to craniometaphyseal dysplasia (123000)

•

en:allelic to deafness, autosomal recessive 23 (609533)

•

en:allelic disorder to distal spinal muscular atrophy, type v (dsmav, 600794), but distinguished by the presence of spasticity

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en:atrophic sural nerve

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en:difficulty rising from a squatting position

•

en:early death in some patients due to cardiorespiratory involvement

•

en:distal muscles may be affected

•

en:diffuse periventricular leukoencephalopathy

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en:distal muscle atrophy due to peripheral neuropathy

•

en:developmental delay, significant

•

en:complicated and pure forms

•

en:cerebral atrophy, mild, diffuse

•

en:autism or autistic features

•

en:mild cognitive impairment (in 2 patients)

•

en:muscle biopsy shows groups of small angulated fibers consistent with denervation

•

en:most common form of congenital methemoglobinemia

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en:monophalangism of first metatarsal

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en:mitochondrial dna depletion (in some)

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en:lack of independent walking (in some patients)

•

en:mental retardation, moderate (in some patients)

•

en:mental retardation, mild to moderate (in some patients)

•

en:necrosis and degeneration seen on muscle biopsy

•

en:involuntary movements, asymmetric

•

en:impaired executive function (in some patients)

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en:increased lactate in the brain

•

en:mut- denotes individuals with structurally altered mutase with reduced affinity for adenosylcobalamin (adocbl)

•

en:phenotypic overlap with parkinson disease

•

en:normal alleles contain up to 44 repeats

•

en:not all patients have skeletal muscle symptoms or mental retardation

•

en:one consanguineous family has been reported (last curated may 2014)

•

en:one family has been reported (last curated march 2014)

•

en:onset in adolescence to early adulthood

•

en:onset in childhood or youth

•

en:onset in late childhood/adolescence (approximately 15 years)

•

en:onset of nephrotic syndrome and thrombocytopenia in mid-childhood

•

en:onset of spastic paraplegia in first year of life

•

en:patients have a distinctive shallow u-shaped audiogram

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en:polyneuropathy (98% of patients)

•

en:presents as early-onset strokes in 43% of patients

•

en:hypoplasia of the brainstem

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en:hyporeflexia (occurs later)

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en:anomalous fifth metatarsal

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en:hypertonia of the extremities

•

en:broad first toe

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en:service comment 32:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

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en:agitation postoperative

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en:acquire ability to walk and jump in childhood, but motor regression occurs later

•

en:age of onset 36 to 55 years (mean 47)

•

en:allelic disorder to cln8 (600143)

•

en:allelic disorder to progressive familial intrahepatic cholestasis-2 (pfic2, 601847)

•

en:progression to proximal muscle weakness

•

en:antibodies can develop after pregnancy or transfusion

•

en:ascending muscle weakness (beginning with feet and legs)

•

en:ataxias, appendicular

•

en:based on report of 1 consanguineous kurdish family with 4 affected sisters (last curated october 2014)

•

en:blistering frequency may decrease with age

•

en:complete recovery upon treatment of hyperthyroidism

•

en:heterozygous mutation carriers may have late-onset of mild symptoms

•

en:cystic lesions in the basal ganglia, brainstem, and cerebral hemispheres similar to leigh syndrome (256000)

•

en:death in childhood may occur due to end-stage renal disease

•

en:decreased nerve conduction velocities (ncv), suggesting demyelination

•

en:decreased or absent ankle reflexes

•

en:defect in glycosylation of alpha-dystroglycan seen on skeletal muscle biopsy

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en:delayed myelination (in some patients)

•

en:delayed myelinization (in some patients)

•

en:downturning toes

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en:equinus deformities (1 patient)

•

en:exercise-induced weakness

•

en:generalized slowing seen on eeg

•

en:genetic heterogeneity (see edm1 132400, edm2 600204, edm3 600969, edm4 226900)

•

en:granular osmiophilic cytoplasmic deposits in schwann cells

•

en:prevalence much higher in whites than blacks

•

en:about 10% of patients develop exercise-induced renal failure and nephrolithiasis

•

en:hypothalamus

•

en:nemaline bodies (rods) on gomori trichrome staining seen on muscle biopsy

•

•

en:leukodystrophy, demyelinating

•

en:lingual-facial-buccal dyskinesia

•

en:long, slender toes

•

en:many cases have submicroscopic subtelomeric deletions of chromosome 9q leading to haploinsufficiency of ehmt1 (607001)

•

en:may have seasonal variance in severity

•

en:median age at onset 23 years

•

en:mental retardation (in 2 patients) learning disability (in 1 patient)

•

en:midline defects

•

en:muscle biopsy shows degeneration of muscle fibers, variation in fiber size, fiber splitting, rimmed vacuoles, and central myonuclei

•

en:muscular paralysis

•

en:myoclonus (in a subset of patients)

•

en:neocortical atrophy

•

en:hypoplasia of muscle

•

en:neonatal/early-infantile onset encephalopathy

•

en:neuronal loss and gliosis in the dentate nucleus

•

en:exaggerated startle response

•

en:no features consistent with cystic fibrosis found in these patients

•

en:onset between 5 to 28 years of age

•

en:onset birth to early childhood

•

en:onset of mental impairment in early childhood

•

en:pachygyria (rare)

•

en:phenotypic variability, intrafamilial

•

en:poor communication

•

en:precipitating factors - ingestion of wheat gluten, rye, and/or barley

•

en:present at birth

•

en:lack of motor development

•

en:normal intellectual function

•

en:hypertonicity of the lower limbs

•

en:cerebral atrophy (1 patient)

•

en:hip flexor weakness

•

en:gastric suction pump, home model, portable or stationary, electric

•

en:acquired protein c deficiency seen in liver disease, dic, and following surgery

•

en:adipose tissue in subarachnoid space

•

•

en:agenesis of the anterior commissure

•

en:amyotrophic lateral sclerosis

•

en:autofluorescent pigment in microglia and macrophages

•

en:a subset of patients develop frontotemporal dementia

•

en:biopsy in both types shows neuronal cytomegaly (large, bizarre, maloriented neurons) in the laminar cortex

•

en:caused by inborn error in bile acid synthesis

•

en:cerebellar stroke

•

en:adult onset (after age 35 years)

•

en:clinically 'silent' nystagmus evident on eye movement recording in carrier females

•

en:gliosis of the white matter

•

en:high incidence in iraqis and sephardic jewish individuals

•

en:decreased distal touch sense (57% of patients)

•

en:hepatic failure develops in first months of life

•

en:hand muscle atrophy

•

en:grand mal seizure

•

en:hamstring muscle affected

•

en:foot deformities

•

en:focal loss of cross striations on muscle biopsy

•

en:exercise-induced myalgia

•

en:emg shows chronic denervation

•

en:emg may show neurogenic changes

•

en:eeg - alpha slowing, 4-6 hz spike waves, myoclonus on photic stimulation (stage 2)

•

en:long metatarsals

•

en:myopathic and neurogenic changes seen on emg

•

en:marked predominance of slow-twitch, oxidative (type 1) muscle fibers

•

en:may progress to other body regions after many years

•

en:mental retardation, borderline-mild in carrier females

•

en:muscle biopsy shows dystrophic pattern

•

en:muscle fiber regeneration

•

en:muscle weakness, severe, axial and proximal predominance

•

en:other features of neurofibromatosis type i (nf1, 162200) may or may not be present

•

en:no phenotypic manifestations

•

en:one family has been reported (last curated june 2013)

•

en:one patient has been reported (as of december 2011)

•

en:onset <30 months

•

en:onset in mid to late childhood

•

en:onset of hearing loss in first or second decade

•

en:partial or complete agenesis of corpus callosum

•

en:patients with mutation in the nhlrc1 gene have slightly longer survival

•

en:gradual spontaneous improvement in the first year of life

•

en:inability to sit or walk independently

•

en:approximately half of patients need ambulatory support after the fifth decade

•

en:genetic heterogeneity (x-linked form 305100)

•

en:brain mri shows t2-weighted hyperintensities (17%)

•

en:reference lab test identifier:id:xxx:reference lab test:nom

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en:resource identifier:uri:pt:study:nom

•

•

en:agenesis of the rostrum of corpus callosum

•

en:prevalence estimated at 1 in 50,000

•

•

en:brachydactyly (1 patient)

•

en:candidal meningitis (in some patients)

•

en:gait impairment (55%)

•

en:cerebellar atrophy, particularly of the hemispheres

•

en:cerebellar hypoplasia (in 1 of 2 patients)

•

en:cerebellar vermis hypoplasia

•

en:cerebral atrophy (in 1 family)

•

en:cogwheel rigidities

•

en:crowding of the posterior fossa

•

en:decreased activity of complexes ii+iii

•

en:developmental delay (in some patients who survive infancy)

•

en:periodic paralysis triggered by exercise, rest following exercise, prolonged periods of rest, and stress

•

en:age of onset between 20 to 30 years

•

en:diabetes status:prid:pt:^patient:nom

•

en:muscle weakness, proximal greater than distal

•

en:mental retardation (average iq 51)

•

en:mental retardation (less common)

•

en:migraine (uncommon)

•

en:mild weakness of the small hand muscles

•

en:mirror movements disorder

•

en:most cases result from de novo mutation or deletion of rai1 (607642)

•

en:muscle biopsy shows endplate myopathy (see details under neurologic heading)

•

en:muscle weakness, mainly proximal and axial

•

en:muscular dystrophy with variable age of onset (infancy to young adult)

•

en:lack of bunina bodies

•

en:nodular heterotopia (rare)

•

en:no response to phenobarbital

•

en:onset at 4 to 10 years

•

en:organic writer's cramp

•

en:patients do not have clinical hypothyroidism

•

en:polydactyly type a

•

en:prevalence of 7 in 100,000 live births

•

en:service comment 13:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

en:limb lymphedema (in some patients)

•

en:n-myc oncogene (164840) amplification is associated with poor prognosis

•

en:ischemic digital necrosis

•

en:gurgling or drooling during seizures

•

en:intracranial thin-walled sinusoidal vessel (cavernous) malformations

•

en:difficulty in walking involving joint of other specified sites

•

en:asymmetrical severely deformed feet (in some patients)

•

en:average age at onset 38 years

•

en:brain imaging shows cortical atrophy

•

en:difficulty walking, running

•

en:distal sensory impairment, mild (in some patients)

•

en:forefoot supination

•

en:dementia of frontal lobe type

•

en:hand and foot weakness

•

en:heterozygotes may also exhibit small joint hypermobility or conductive hearing loss

•

en:hypercalciuria and/or nephrolithiasis occurs in heterozygotes

•

en:hypertonia of lower limbs, later

•

en:hypoplasia of the distal phalanx of the 5th toe

•

en:hypoplasia of the pyramidal tract

•

en:hypothyroidism is less severe in individuals with high dietary iodine intake

•

en:increased fatigue

•

en:intercostal muscle involvement

•

en:incomplete myelination

•

en:less than 20% have onset at 18 years of age or less (dominant and recessive)

•

en:lateral deviation of the fifth toe

•

en:increased fat and fibrous tissue

•

en:incomplete penetrance of optic atrophy

•

en:hypoglycosylation of alpha-dystroglycan

•

en:incidence of 1 in 1,000,000

•

en:impaired heel-walking

•

en:hypotonia, mild (1 patient)

•

en:hypo- or areflexia

•

en:loss of language ability

•

en:limited walking ability

•

en:onset of neurologic events can occur between 4 and 35 years of age

•

en:mild sensory impairment

•

en:muscle weakness, proximal, distal, and axial, severe

•

en:muscle weakness, proximal, pelvic girdle (in severe cases)

•

en:mutation in the mass1 gene has been identified in 1 of 48 families with familial febrile seizures linked to 5q14

•

en:neurodegeneration in the cerebellum

•

en:neurogenic changes

•

en:occurs on right side in 75% of cases

•

en:olfactory or auditory hallucinations

•

en:onset before age 20

•

en:onset birth to 6 months

•

en:onset usually after viral-like infection

•

en:other variants of waardenburg syndrome include waardenburg syndrome type 2 (193510), waardenburg syndrome type 3 (148820), and waardenburg syndrome type 4 (277580)

•

en:genetic heterogeneity

•

en:hearing loss is variable

•

en:adult onset (45 to 76 years)

•

en:genetic anticipation has been observed

•

en:caudate atrophy

•

en:psychiatric symptoms nec

•

en:service comment 30:impression/interpretation of study:point in time:to be specified in another part of the message:nominal

•

•

en:neonatal behavioural syndrome

•

en:tic

•

en:accumulated lipid droplets seen on muscle biopsy

•

en:patients with abcb4 mutations benefit from ursodeoxycholic acid (udca) treatment

•

en:age at onset can range from infancy to childhood

•

en:associated with increased paternal age

•

en:association with autoimmune diseases

•

en:a subset of patients have heterozygous mutations consistent with a dominant-negative effect

•

en:chorea of hands

•

en:first dorsal interossei muscle weakness

•

en:chronic ulceration due to sensory neuropathy

•

en:coenzyme q10 deficiency

•

en:cognitive decline (in some patients)

•

en:death occurs in second or third decade

•

en:de novo mutation resulting in haploinsufficiency of eftud2 (603892)

•

en:distal limb muscle atrophy (less common)

•

en:distal muscle atrophy, affecting the lower limbs

•

en:dysarthria (in some patients)

•

en:dysfunctional ankle joints

•

en:early childhood onset (before age 5 years)

•

en:early onset has rarely been reported

•

en:extensor posturing

•

en:painful adipose tissue

•

en:one chinese family and 1 unrelated patient have been reported (last curated april 2013)

•

en:peripheral neuropathy has been reported in rare cases

•

en:language disorder

•

en:female carriers may show mild learning disabilities

•

en:furrowed sole

•

en:genetic heterogeneity (see bafme1, 601068)

•

en:groups of atrophic fibers seen on muscle biopsy (type i fiber predominance)

•

en:heterozygotes - 39% severe phenotype, 28% clinically symptomatic, 28% x-ray changes only, 4% non-penetrant

•

en:high-arched feet (1 patient)

•

en:hyperactive deep tendon reflexes in early stage

•

en:hyperreflexia may occur

•

en:incidence of 1 in 39,000

•

en:incidence of 1 in 57,000

•

en:inheritance may be x-linked dominant

•

en:known as the 'french variety' of usher syndrome since the majority of families are from poitou-charentes, france

•

en:loss of sensation in the face (trigeminal nerve region, cn v) (11%)

•

en:extrapyramidal features

•

en:majority of cases are due to de novo mutation

•

en:mental retardation (seen in hhs variant)

•

en:mild cognitive disorder

•

en:mortality approximately 20% in first 2 years

•

en:muscle weakness, severe

•

en:neurologic symptoms are not always present or may appear late

•

en:one chinese family has been reported (last curated october 2012)

•

en:one family (4 affected members) has been reported (last curated july 2012)

•

en:onset in early childhood (4 to 5 years)

•

en:onset in the second or third decade of life

•

en:pointed distal phalanges

•

en:progressive ventriculomegaly

•

en:febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients)

•

en:onset of gaze palsy at birth

•

en:enhancement of the c-reflex

•

en:central hypoventilation occurs late in the disease and is often fatal

•

en:presents at a later age than sporadic wilms tumor

•

en:progresses to involve upper limbs

•

•

en:acral overgrowth

•

en:procedural dizziness

•

en:absence of laminin alpha-2 chain in muscle

•

en:adult onset (18 to 60 years)

•

en:agenesis or severe hypoplasia of cerebellar vermis

•

en:allelic disorder to rigid spine muscular dystrophy (rsmd1, 602771)

•

en:aplasia/hypoplasia of the cerebellum

•

en:by fourth decade, many patients need help with ambulation

•

en:adult onset may also occur

•

en:cerebellar ataxia (rare)

•

en:diagnosis in early childhood

•

en:dyskinesia, limb, exertion-induced

•

en:children rarely develop the disorder

•

en:distal muscle weakness and atrophy, predominantly lower limbs, due to peripheral neuropathy

•

en:difficulty running

•

en:distal sensory loss to all modalities, lower limbs more affected than upper limbs

•

en:deleted region contains 4 genes that are not imprinted, tubgcp2 (608147), nipa1 (608145), nipa2 (608146), and cyfip1 (606322)

•

en:death often before age 2

•

en:contracture of tendo achilles

•

en:edema is present at birth and then slowly decreases

•

en:decreased muscle mass (especially in lower limbs)

•

en:decreased thiamine pyrophosphate

•

en:onset in childhood, adolescence

•

en:large, broad feet

•

en:loss of purposeful hand movements

•

en:increased risk of bilateral breast cancer

•

en:mental retardation, mild (carrier females)

•

en:metatarsal periosteal thickening

•

•

en:migraine headaches (onset in adolescence)

•

en:mitochondrial dna deletions (in some patients)

•

en:myoclonic seizures occur on awakening or within 2 hours of awakening

•

en:normal intelligence (in some patients)

•

en:mean age of onset about 62 years (45-79 years)

•

en:abnormal fat accumulation below the triceps (in some patients)

•

en:onset in infancy or childhood

•

en:oral supplementation with ubiquinone does not result in major clinical improvement

•

en:overlapping features of digeorge syndrome

•

en:pachygyria (1 patient)

•

en:peripheral nerve involvement may occur

•

en:prevalence in sardinia is 1 in 14,000

•

en:primary teeth affected greater than secondary teeth

•

en:progressive, with full manifestations at puberty

•

en:proximal muscle weakness, mild, of shoulder and hip girdle muscles (in some patients)

•

en:date reference lab test sent:time stamp -- date and time:time reported elsewhere:reference lab test:quantitative

•

en:extrapyramidal gait

•

en:increased mitochondria seen on muscle biopsy

•

en:absence of the inferior olives

•

en:increased mitochondria with rare paracrystalline inclusions

•

en:cardiomyopathy may develop later in the disease

•

en:heterozygous females more mildly affected than hemizygous males

•

en:based on report of 1 saudi arabian family (last curated february 2015)

•

en:angulated atrophic fibers

•

en:gait apraxia

•

en:abnormal insertion of the toes

•

en:amyotrophy, neurogenic

•

en:ankle clonus (in some patients)

•

en:areflexia of lower limbs

•

en:attacks more common in women

•

en:atypical absence seizure

•

en:autosomal recessive inheritance has also been reported

•

en:average age at death is 37 years

•

en:based on 2 reported patients, 1 male and 1 female (last curated august 2013)

•

en:bilateral striatal lucencies on imaging

•

en:headache duration 4-72 hours

•

en:bullae are located randomly in familial cases and apical in sporadic cases

•

en:carrier frequency in finland 1/40

•

en:cerebellar ataxia, limb and trunk

•

en:cerebrospinal fluid glucose decreased

•

en:death in fourth to fifth decade

•

en:decreased mitochondrial respiratory chain complex activity

•

en:de novo mutations occur almost exclusively on the paternally derived x chromosome

•

en:difficulty standing alone

•

en:distal muscle atrophy due to neurologic disease

•

en:favorable response to bh4

•

en:first described in acadian population of louisiana

•

en:global developmental delay if untreated

•

en:absent speech

•

en:gait disturbance

•

en:approximately one-third of patients eventually lose outer hair cell function and have profound sensorineural deafness (after 10 to 20 years)

•

en:occurs in ~3% pregnancies in western populations

•

en:most patients become wheelchair-bound in the second to fourth decades

•

en:mri shows leukoencephalopathy

•

en:muscle stiffness and rigidity, chronic, fluctuating

•

en:muscle weakness following prolonged exercise

•

en:mutation in the hcrt gene has been identified in 1 patient

•

en:myelin outfoldings

•

en:nerve biopsy shows loss of myelinated fibers

•

en:nerve conduction studies show mildly reduced or normal sensory values

•

en:neurocognitive impairment, mild (homozygous patient)

•

en:normal initial psychomotor development

•

en:no family history, de novo mutations

•

en:one consanguineous pakistani family has been described (last curated march 2015)

•

en:mild proximal muscle weakness (<10% of patients)

•

en:onset between the second and sixth decades

•

en:onset in childhood (5 to 10 years)

•

en:onset in infancy (first hours to weeks of life)

•

en:onset of ataxia between 1 and 3 years of age

•

en:onset ranges from early childhood to adulthood (usually before age 15)

•

en:patients can be divided into 2 groups based on whether typical hand anomalies are present

•

en:patients may become wheelchair-bound as adults

•

en:periventricular white matter abnormalities (in some patients)

•

en:phenotypic overlap between neurofibromatosis type 1 (162200) and noonan syndrome (163950)

•

en:poor gross motor coordination

•

en:poor responsiveness

•

en:associated with paresthesias and dysesthesias

•

en:mitochondrial paracrystalline inclusion bodies

•

en:proximal muscle weakness, limb-girdle distribution

•

en:median age of onset of nail dystrophy - 7 years (range 1-6 years)

•

en:external rotation 4th and 5th toes

•

en:asymptomatic heterozygotes susceptible to lead toxicity

•

en:autonomic involvement

•

en:central cores seen on muscle biopsy

•

en:cerebral thrombosis (e.g. 612283.0014 protein c deficiency)

•

en:chronic subtype, headaches occur without remission for 1 year

•

en:clumsiness in childhood

•

en:cutaneous syndactyly of toes

•

en:death usually in early childhood

•

en:males are more severely affected than females

•

en:dystonia (less common)

•

en:early-onset associated with more severe course and early death

•

en:early involvement of the corticospinal pathways

•

en:dementia (in some patients)

•

en:female carriers may have subtle manifestations

•

en:inability to hold neck up ('limber neck') onset at 6 months

•

en:focal tremor

•

en:liver enzymes decrease with age

•

en:intracranial calcifications (in some patients)

•

en:intermittent migraine headaches

•

en:intelligence is normal

•

en:hypodensity of lenticular nuclei

•

en:hippocampal hypoplasia

•

en:heterozygotes demonstrate a milder phenotype, consistent with a semidominant inheritance pattern

•

en:heightened sensitivity to external stimuli

•

en:head tremor, mild

•

en:low-normal intelligence

•

en:often associated with chiari type i malformation (cm1, 118420)

•

en:onset in infancy and early childhood

•

en:only some achieve rolling or sitting

•

en:one highly consanguineous family has been reported (last curated may 2014)

•

en:most children become wheelchair-bound

•

en:numbness of lower extremities

•

en:no neurofibrillary tangles

•

en:muscle atrophy, mild, more proximal than distal

•

en:mri shows symmetric lesions of the basal ganglia (particularly caudate and putamen)

•

en:motor symptoms are variable

•

en:onset in the first few months of life patients may need lifelong total parenteral nutrition

•

en:absent corpus callosum (variable)

•

en:onset of seizures around 7 to 12 years

•

en:onset of seizures in first months of life

•

en:onset ranges from childhood (severe phenotype) to adulthood (limited phenotype)

•

•

en:osteolysis of tali (bone loss and fragmentation of posterior talus)

•

en:patients often require implantation of a pacemaker

•

en:peripheral neuropathy (reported in 1 patient)

•

en:possible x-linked dominant inheritance

•

en:posterior slow-wave activity on eeg

•

en:prelingual onset

•

•

en:abnormal visual evoked potential

•

en:lower limb muscle weakness due to peripheral neuropathy

•

en:median age of diagnosis - 15 years

•

en:conduction defect is progressive

•

en:loss of subcutaneous adipose tissue from upper limbs and trunk

•

en:based on report of 2 families (last curated january 2014)

•

en:age of onset 23-59 years

•

en:foot

•

en:neglected appearance

•

en:persian gulf syndrome

•

en:winged scapula

•

en:'onion bulb' formations (rare)

•

en:abnormal irregular myofibrillar network

•

en:anemia, diabetes, and deafness often show onset at different ages

•

•

•

en:axonal degeneration/regeneration on nerve biopsy

•

en:cobblestone lissencephaly

•

en:impaired expressive speech

•

en:contiguous gene deletion syndrome (in most patients)

•

en:d+hus (typical hus) is usually sporadic, limited to 1 event, and has a good prognosis

•

en:decreased sleep latency

•

en:delayed opercularization

•

en:discordant phenotype among monozygotic twins has been reported

•

en:distal limb muscle weakness, lower more than upper

•

en:dysarthria, mild (in some patients)

•

en:edema, generalized

•

en:eeg is slowed with polyspike wave discharges

•

en:fat accumulation in the suprabuttock area

•

en:gait difficulties due to contractures of the lower limbs

•

en:immunologic defects are variable

•

en:adult-onset is referred to as small fiber neuropathy

•

en:affected males show onset of hematuria in first year of life

•

en:auditory auras

•

en:neuronal loss in the striatum, medial thalamic nuclei, and inferior olives

•

en:mild shortening of metatarsals

•

en:most common form of autosomal dominant hereditary spastic paraplegia (accounts for 40% of spg cases)

•

en:most frequently affected joints - hands (98%) and feet (88%)

•

en:most patients die in early childhood

•

en:muscle wasting (especially legs and arms)

•

en:muscle weakness, proximal, due to neuronopathy begins in the lower limbs and then progresses to upper limbs

•

en:myoclonic-astatic seizures

•

en:nemaline bodies are usually subsarcolemmal or sarcoplasmic

•

en:nerve biopsy shows axonal degeneration/regeneration

•

en:neuroaxonal dystrophies

•

en:neuronal loss and gliosis in the substantia nigra pars compacta

•

en:normal motor nerve conduction velocity (except in severely wasted muscles)

•

en:lymphedema, hands (rare)

•

en:no sensory deficit

•

en:one consanguineous family of ashkenazi jewish origin has been reported (last cureated may 2012)

•

en:one family has been reported (last curated february 2015)

•

en:onset in first days of life

•

en:onset of sleepwalking between 4 and 8 years old

•

en:optic ataxia (in a subset of patients)

•

en:partial deficiency of hypoxanthine phosphoribosyltransferase (hprt, 78% activity)

•

en:paucity or absence of lymph nodes in the axillae and above the inguinal ligaments seen on scintilymphangiography

•

en:pelizaeus-merzbacher disease (pmd, 312080) is an allelic disorder

•

en:poor coordination

•

en:poor motor development

•

en:a mutation in the lbr gene has been identified in 1 patient (as of july 2010)

•

en:mild mental retardation

•

en:one consanguineous turkish family has been reported (last curated july 2014)

•

en:limb dystonia

•

en:familial hemiplegic migraine-2 (fhm2, 602481) is an allelic disorder with an overlapping phenotype

•

en:brainstem white matter lesions

•

en:later onset with a milder phenotype may also occur

•

en:cerebellar ataxia, mild, late-onset

•

en:cerebellar atrophy (especially of the vermis)

•

en:cognitive deficits, mild (in some patients)

•

en:cold-induced hand cramps

•

en:coloboma is associated with larger microdeletion (490kb) of 11q13

•

en:contractures (older children and adolescents)

•

en:dislocation of toe joint

•

en:distal aspect of the talus is projected plantarly

•

en:extrapyramidal signs (less common)

•

en:contiguous gene deletion syndrome

•

en:flaccidity, episodic

•

en:hypoplasia of corpus callosum and cerebellar vermis

•

en:involuntary movements may be precipitated by exertion or anxiety

•

en:focal interhemispheric fusion

•

en:increased variability of fiber size seen on muscle biopsy

•

en:incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes

•

en:inability to reach

•

en:impaired ambulation due to muscle weakness

•

en:genetic heterogeneity, see ppnad2 (610475)

•

en:generalized tonic-clonic seizures (gtcs) (in most patients)

•

en:gait abnormalities (in some patients)

•

en:four unrelated patients with zswim6 mutations have been described (last curated september 2014)

•

en:in general, men have more severe disease than women

•

en:one spanish family has been reported (last curated august 2014)

•

en:one patient died at age 7 years

•

en:one report of brother and sister from nonconsanguineous parents

•

en:one swiss family with 19 affected individuals has been described (last curated february 2014)

•

en:one patient with normal psychomotor development has been reported (last curated december 2012)

•

en:one patient has been reported (as of august 2010)

•

en:one family has been reported (last curated august 2013)

•

en:one patient (patient a) and 2 sibs have been reported (last curated february 2015)

•

en:one pakistani family has been reported (last curated september 2013)

•

en:one german family has been reported (as of september 2009)

•

en:one family reported (as of may 2012)

•

en:one family of french-canadian origin has been reported (last curated august 2014)

•

en:one consanguineous pakistani family reported (last curated august 2013)

•

en:onset before age 20 years

•

en:one consanguineous pakistani family has been reported (last curated june 2012)

•

en:onset ages 2 to 14 years

•

en:onset in males in first to third decade

•

en:onset before age 3 years

•

en:onset in first months of life

•

en:one 4-generation chinese family has been reported (as of 04/2010)

•

en:onset in utero or in infancy

•

en:onset in second decade or unilateral involvement indicates a diagnosis of 'progressive cribriform and zosteriform hyperpigmentation' (pczh)

•

en:onset in second decade, but sometimes earlier

•

en:onset in neonatal period or infancy

•

en:onset in infancy was reported in 1 family

•

en:onset in first weeks to months of life

•

en:onset in first decade (birth to 6 years)

•

en:onset between 12 and 30 years (average 22)

•

en:onset in first 2 decades

•

en:onset in early to late childhood

•

en:onset in childhood or adolescence

•

en:onset in childhood (range 1 to 9 years)

•

en:onset in adolescence or young adulthood has been reported

•

en:onset first to seventh decade with 30 to 40 year mode

•

en:onset between ages 10 and 25 years

•

en:one amish family has been reported (last curated july 2014)

•

en:neurologic crises with coma (in some patients)

•

en:occurs in at least 1 in 55,000 male births (that figure may not include milder variants)

•

en:neurogenic bladder

•

en:neuropathic or myopathic changes seen on emg

•

en:neuron apoptotic process

•

en:neuronal loss in the purkinje cell layer of the cerebellar vermis

•

en:neurologic symptoms may develop decades later

•

en:neurologic deficits may occur secondarily to malabsorption

•

en:onset may be triggered by emotional stress, fever, exercise, exposure to heat

•

en:neurogenic changes later in disease seen on emg

•

en:neurogenic abnormalities seen on emg

•

en:neurophysiologic studies show evidence of denervation and renervation

•

en:neonatal death secondary to pulmonary insufficiency

•

•

en:natural aversion to carbohydrates and favoring of protein

•

en:nails appear normal at birth, with dystrophic changes developing within the first decade of life

•

en:myotonic seizures

•

•

en:myopathic pattern seen on emg (in some patients)

•

•

en:neuropsychologic cognitive abnormalities

•

en:oblique talus (in some patients)

•

en:no cardiac or immune defects in patients from the 2 reported families

•

en:nystagmus decreases on convergence

•

•

en:no visual fixation

•

en:no speech development (in most patients)

•

en:no pick bodies or lewy bodies

•

en:no neurofibromas

•

en:no mental retardation

•

en:normal sensory action potentials

•

en:newborn period is critical for survival

•

en:normal or mildly decreased motor nerve conduction velocities (ncv)

•

en:normal nerve conduction velocities

•

en:normal lamp2 staining (309060)

•

en:normal intelligence in iib

•

en:normal cognition (1 patient)

•

en:normal alleles have 4 to 18 repeats

•

en:non-ossified talus and calcaneus

•

en:onset is usually in childhood or adolescence (2 to 18 years)

•

en:patients may become wheelchair-bound

•

en:onset of achalasia in infancy or early childhood

•

en:precipitated by mechanical compression or pressure on nerve

•

en:presents at a later stage than sporadic wilms tumor

•

en:presentation in childhood includes waddling gait and knee pain/stiffness

•

en:prenatal or perinatal lethality in hemizygous males

•

en:prenatal or neonatal onset

•

en:premature stroke

•

en:predominantly lower limb lymphedema

•

en:preaxial polysyndactyly

•

en:prevalence 1-2% in northern european populations

•

en:potassium sensitivity has been reported

•

en:postexercise cmap amplitude facilitation

•

en:possible genetic heterogeneity (linkage to xp22 in some families)

•

en:possible autosomal dominant (165199) and autosomal recessive (258650) forms

•

en:poor response to acetylcholinesterase inhibitors

•

en:polyps occur in teens

•

en:polydactyly, postaxial (less common)

•

en:presumed autosomal dominant with incomplete penetrance

•

en:prevalence in the finnish population of 5.8 per million

•

en:peroneal nerves show severely reduced cmaps

•

en:progressive deafness

•

en:protein s deficiency is found in 2-3% of patients with thromboembolism

•

en:prominent sensory loss, distal

•

en:progressive spastic quadriplegia

•

en:progressive neurologic deterioration if untreated

•

en:progressive myoclonus epilepsy

•

en:progressive extrapyramidal movement disorder

•

en:progressive ectopic ossification (neck, dorsal trunk, proximal limbs, sternocleidomastoid, masseters)

•

en:progressive cns degeneration

•

en:prevalence of 1 in 70,000

•

en:progressive bulbar palsy

•

en:progression to profound hearing loss affecting all frequencies

•

en:progression of disease stops at a best-corrected visual acuity of 0.2 (20/100) to 0.1 (20/200)

•

en:prion protein-positive senile plaques

•

en:primitive reflexes (palmomental, snout, glabellar)

•

en:primitive reflex

•

en:prevalent in the old order amish in the u.s. and in finland

•

en:pneumocytosis carinii infection (12 to 42%)

•

en:peripheral neuropathy (some patients)

•

en:onset of contractures in utero

•

en:onset soon after birth

•

•

en:pachygyria, occipital

•

en:over time, white matter vanishes and is replaced by csf

•

en:onset within first 6 months of life

•

en:onset usually in the first 4 years of life

•

en:onset usually in early childhood (but can range from infancy to adolescence)

•

en:onset usually associated with febrile illness

•

en:onset ranges from childhood to adulthood

•

en:paroxysmal lethargy

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en:onset of visual loss in childhood (around age 5 years)

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en:onset of symptoms 2-6 years of age

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en:onset of spasticity in childhood

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en:onset of slowly progressive spastic paraplegia in first or second decade

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en:onset of kyphosis in childhood

•

en:onset of disease 3-8 years

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en:onset of dilated cardiomyopathy less than 3 years

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en:paradoxical myotonia (myotonia increases with exercise)

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en:partial laminin alpha-2 deficiency results in milder phenotype

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en:peripheral motor and sensory neuropathy, distal

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en:patients who acquire ability to walk may lose it

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en:periodic paralysis (finding)

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en:perinatal mortality

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en:patients with neurologic manifestations and sox10 mutations have the neurologic variant (pcwh, 609136)

•

en:patients with mutations in the chrne gene have a milder phenotype because fetal chrng (100730) exhibits phenotypic rescue

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en:patients with longer disease duration show motor neuron involvement

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en:patients with contiguous gene deletion of 8q24 have more severe features

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en:patients with autosomal dominant inheritance and a single gdap1 mutation have a less severe course with later onset

•

en:patients may present with recurrent illnesses or infections, or shock

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en:pathogenic alleles contain 52 to 86 repeats

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en:patients may develop a seizure disorder later in life

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en:patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root

•

en:patients can have multiple seizure types

•

en:patients are prone to impaired thermoregulation

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en:patients are often asymptomatic

•

en:patients achieve independent ambulation, but may lose it

•

en:pathologic calcification, calcified structure

•

en:myopathic pattern on emg

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• Mathieu Lafourcade • LIRMM (données libres en Creative Commons) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6798855 • caches: c1=12 c2=1021 c3=1

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