Diko : en:lipid droplet accumulation

en:lipid droplet accumulation

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C3278535

Associations d'idées

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1000

en:transient eosinophilic myositis (seen on muscle biopsy) in the first decade

•

en:tremors subside over the first 2 to 3 months of life

•

en:superficial rerouting of lymph through the skin

•

en:abnormal muscle fibers with amorphous, granular, or hyaline deposits

•

en:clumsiness

•

en:muscle hypertrophy in affected area

•

en:muscle pain (less common)

•

en:necrotic fibers

•

en:normal or increased facial and neck adipose tissue

•

en:partial lipodystrophy (abnormal distribution of subcutaneous adipose tissue)

•

en:rhabdomyolysis with exercise (in older patients)

•

en:muscular stiffness

•

en:vacuoles appear to be exocytosing material at the cell surface

•

en:disruption of sarcomeres with disorganization of the z band

•

en:distal limb muscle weakness, lower more than upper

•

en:emg shows fibrillations

•

en:increased glycogen in muscle (but to a lesser extent than in the heart)

•

en:increased opening duration of acetylcholine receptor (achr)-induced ion channels

•

en:limb lymphedema (in some patients)

•

en:mild kinetic abnormalities of the achr (in some patients)

•

en:muscle biopsy shows lipid deposition

•

en:no muscle weakness

•

en:decrement of the compound muscle action potential on repetitive stimulation

•

en:small, firm, rubbery, flesh-colored nodules most commonly found on the head, neck, and trunk

•

en:z-disk degeneration

•

en:superior rectus atrophy

•

en:subsarcolemmal mitochondrial accumulation

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria (on electron microscopy)

•

en:decreased complex i activity (rare)

•

en:non-pitting edema

•

en:neonatal hypotonia muscle biopsy shows pas-positive vacuoles

•

en:indentations or folds of the sarcolemma are connected to the membranes enclosing the vacuoles

•

en:emg shows myopathic or neurogenic changes

•

en:duchenne muscular dystrophy (dmd, 310200) in 'complex' form

•

en:calf hypertrophy (early in the disease)

•

en:biopsy shows dystrophic changes

•

en:denervation

•

en:decreased collagen vi

•

en:skeletal muscle biopsy shows dystrophic changes

•

en:weakness of the intrinsic hand muscles (in some patients)

•

en:variably decreased alpha-dystroglycan expression (dag, 128239)

•

en:subsarcolemmal mitochondrial aggregates

•

en:skeletal muscle biopsy shows minor variation in fiber size

•

en:subcutaneous edema

•

en:proximal muscle atrophy (in some patients)

•

en:muscle biopsy shows glycogen accumulation in myofibrils and lysosomes

•

en:increased visceral fat

•

en:increased fiber size variability

•

en:gait abnormalities (occurs later)

•

en:forearm muscle weakness

•

en:degenerating nerve terminals

•

en:cytochrome c oxidase-negative fibers

•

en:decreased muscle bulk

•

en:muscle biopsy shows necrotic and regenerating fibers

•

en:muscle hypertrophy

•

en:bilateral foot drop

•

en:degenerate mitochondrial on em

•

en:hip girdle muscle atrophy

•

en:edema of hands and feet (in some patients)

•

en:generalized muscle wasting

•

en:head drop due to neck muscle weakness

•

en:necrotic muscle fibers

•

en:normal mitochondrial morphology (1 patient)

•

en:predominantly lower limb lymphedema

•

en:prolonged achr channel opening episodes

•

en:mild endplate myopathy

•

en:amyotrophy affects c5 to t1 myotomes

•

en:decreased muscle mass (especially of limbs)

•

en:distal lower limb muscle weakness and atrophy

•

en:facial muscle weakness and atrophy, progressive

•

en:increased central nucleation

•

en:small nerve terminals

•

en:pelvic girdle muscle weakness (occurs earlier)

•

en:ankle edema (finding)

•

en:interosseus muscles involved

•

en:limb weakness, proximal followed by distal

•

en:nemaline bodies are rarely intranuclear

•

en:slim, muscular build (in some patients)

•

en:unable to walk

•

en:muscle weakness, distal more than proximal

•

en:angular fibers (in some patients)

•

en:ascites (in some patients)

•

en:atrophic

•

en:chronic denervation seen on skeletal muscle biopsy

•

en:increased perisarcolemmal calcium deposition

•

en:internal nuclei seen on muscle biopsy

•

en:lymphedema of upper and/or lower limbs (in some patients)

•

en:muscle biopsy shows deficiency of mitochondrial respiratory enzymes i, iii, iv, and iv

•

en:muscle cramps during exercise

•

en:muscle weakness, proximal, upper and lower limbs affected

•

en:myofibrillar disintegration

•

en:small atrophic fibers (in some patients)

•

en:type 2 fiber predominance

•

en:distal lower limb amyotrophy

•

en:fiber size variation seen on muscle biopsy

•

en:gowers sign (patient a)

•

en:myopathic and neurogenic changes seen on emg

•

en:partial lipodystrophy (abnormal distribution of subcutaneous adipose tissue) (1 family)

•

en:tremor at birth, involving most skeletal muscle groups, especially jaw muscles and lower limb muscles

•

en:emg shows myopathy

•

en:muscle biopsy shows fibrosis and increased connective tissue

•

en:interfibrillar and subsarcolemmal vacuoles

•

en:fiber-type grouping pattern

•

en:absence of some scapular muscles (less common)

•

en:electromyogram abnormal

•

en:decreased numbers of acetylcholine receptors (achr) in the postsynaptic membrane (less than 50% of normal)

•

en:biopsy shows myopathic and dystrophic changes

•

en:prominent veins, lower limbs

•

en:muscle biopsy shows sarcoplasmic rods in myofibers

•

en:loss of subcutaneous fat

•

en:spontaneous muscle activity

•

en:variable deficiencies of mitochondrial respiratory chain enzymes

•

en:abnormal aggregates of desmin and filamin c

•

en:a subset of patients develop bilateral weakness

•

en:distal weakness, upper and lower limbs (variable)

•

en:dystrophic changes on biopsy

•

en:electron microscopy shows abnormal mitochondria with disorganized and vacuolated cristae

•

en:muscle biopsy shows grouped atrophy

•

en:reduced o-mannosyl glycans on alpha-dystroglycan

•

en:symmetrical muscle wasting

•

en:inclusions form a lobulated structure seen on electron microscopy

•

en:type 1 fiber predominance seen on muscle biopsy

•

en:muscle coenzyme q deficiency

•

en:loss of subcutaneous adipose tissue from gluteal region

•

en:vacuoles in the myofiber cytoplasm

•

en:hypoplasia of serratus anterior muscle

•

en:floppy infant syndrome

•

en:familial generalized lipodystrophy

•

en:exercise-induced muscle fatigue

•

en:disorganization of the neuromuscular junction

•

en:vacuolar myopathy may occur

•

en:nemaline myopathy (in 1 reported male)

•

en:asymmetric muscle involvement

•

en:muscle rigidity

•

en:wheelchair dependency in 20% of patients by age 40

•

en:pyruvate oxidation defect

•

en:proximal myopathy

•

en:proximal limb muscle weakness initially

•

en:small miniature endplate currents (mepc)

•

en:increased internal nuclei

•

en:decreased muscle mass

•

en:calcific tendinopathy, early-onset (in some patients)

•

en:decreased hand grip strength

•

en:decreased activity of complexes ii+iii

•

en:hypotonia (2 patients)

•

en:muscle weakness, lower limbs (patient a)

•

en:chronic weakness

•

en:absence of pectoralis minor muscle

•

en:'hanging' big toe

•

en:enteroviral dermatomyositis syndrome

•

en:muscle biopsy shows dystrophic changes

•

en:mitochondrial vacuolization seen on muscle biopsy

•

en:marked loss of subcutaneous fat in the limbs, face, and sometimes chest

•

en:both type 1 and type 2 fiber predominance has been reported

•

en:greater soleus involvement than gastrocnemii involvement seen on mri

•

en:difficulty walking

•

en:abnormal irregular myofibrillar network

•

en:hypoplasia of supraspinatus muscle

•

en:normal or increased facial adipose tissue

•

en:lymphedema (lower limb)

•

en:upper limb weakness

•

en:skeletal muscle biopsy shows hypertrophy of type 1 and 2 muscle fibers

•

en:recovery between attacks

•

en:progressive distal and proximal symmetric limb weakness

•

en:sarcomere disappearance seen on muscle biopsy

•

en:nemaline bodies occur in type 1 fibers

•

en:muscle fiber splitting (in some patients)

•

en:muscle biopsy shows variation in fiber size

•

en:muscle atrophy, distal, particularly affecting the hands muscle biopsy shows variation in fiber size

•

en:mild weakness

•

en:normal dystrophin immunostaining

•

en:myofibrillar lesions

•

en:neurogenic changes seen on emg

•

en:neurogenic changes

•

en:nemaline rod formation

•

en:nemaline bodies

•

en:muscle biopsy shows lipid droplets

•

en:necrotic and regenerating muscle fibers

•

en:myopathy (rare)

•

en:myogenic changes seen on emg

•

en:muscle stiffness (in older patients)

•

en:muscle weakness and atrophy, upper and lower limbs

•

en:muscle weakness, upper and lower limbs

•

en:muscle weakness, severe, axial and proximal predominance

•

en:muscle weakness, predominantly proximal (in some patients)

•

en:muscle weakness, mainly proximal and axial

•

en:muscle wasting due to chronic denervation

•

en:muscle pain and cramping on exertion

•

en:muscle mitochondria normal by histochemical analysis

•

en:muscle hypertrophy of the lower extremities

•

en:muscle biopsy shows rimmed vacuoles

•

en:normal muscle fiber (hcs)

•

en:normal lamp2 staining (309060)

•

en:stiffness (uncommon)

•

en:no muscle fiber necrosis

•

en:shoulder muscle weakness (in some patients)

•

en:weakness of all intrinsic hand muscles (later)

•

en:vacuoles are autophagocytic and contain granular and membranous cellular debris

•

en:vacuolar membranes immunostain with sarcolemmal proteins

•

en:tubulofilamentous inclusions

•

en:tubular aggregates in muscle fibers may occur

•

en:toe-walking gait

•

en:muscle biopsy shows atrophic fibers

•

en:slowly-progressive muscle wasting and weakness with humeroperoneal and scapuloperoneal distribution

•

en:skeletal muscle tissue shows depletion of mitochondrial dna (mtdna)

•

en:shoulder weakness and atrophy

•

en:short and thickened z-discs

•

en:no staining for periodic acid schiff (pas)

•

en:secondary myopathic features

•

en:sarcoplasmic or subsarcolemmal vacuoles in muscle fibers seen on muscle biopsy

•

en:repetitive response to single nerve stimulation

•

en:repetitive action potentials in response to single nerve stimulation

•

en:rare necrotic fibers

•

en:ragged red fibers seen on biopsy

•

en:ragged-red fibers seen on muscle biopsy

•

en:pseudohypertrophy of muscle

•

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

•

en:prominent involvement of the biceps brachii muscles

•

en:phagocytic vacuoles with degraded membranous material

•

en:muscle biopsy shows centralized nuclei

•

en:increased muscle glycogen content

•

en:muscle biopsy may show inflammatory changes

•

en:defective glycosylation of alpha-dystroglycan seen on biopsy

•

en:fiber size variation seen on biopsy (in some patients)

•

en:excess fat, symmetrically located in buttocks and lower extremities to ankles

•

en:enlarged mitochondria

•

en:emg may show myopathic features

•

en:distal muscle weakness, lower limbs more severely affected than upper limbs

•

en:distal muscle atrophy due to peripheral neuropathy of upper and lower limbs

•

en:distal muscle atrophy due to neurologic disease

•

en:distal limb muscle weakness occurs later

•

en:distal limb muscle weakness due to peripheral neuropathy

•

en:degenerative features seen on muscle biopsy

•

en:decremental muscle response to repetitive nerve stimulation

•

en:generalized lipodystrophy (abnormal distribution of subcutaneous fat)

•

en:decremental compound muscle action potential (cmap) in response to repetitive nerve stimulation seen on emg

•

en:decreased postsynaptic length

•

en:decreased mtdna

•

en:decreased mitochondrial complex iv activity (in some patients)

•

en:congophilic staining

•

en:attacks of weakness

•

en:atrophy of type i fibers

•

en:absence of necrosis

•

en:abnormal fat accumulation in axillae (in some patients)

•

en:abnormal glycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:gastrocnemius and soleus muscles most affected

•

en:generalized muscle weakness

•

en:muscle atrophy restricted to the upper limb

•

en:lipoatrophy

•

en:muscle atrophy (type i)

•

en:muscle atrophy, mild

•

en:muscles do not contract upon electrical stimulation

•

en:multiple mitochondrial dna (mtdna) deletions (in most cases)

•

en:mitochondrial complex iii deficiency, isolated, seen on muscle biopsy

•

en:minicores or core-like regions may be present

•

en:mildly reduced respiratory enzyme activities except for complex ii

•

en:macroglossia

•

en:lower limbs more affected than upper limbs

•

en:loss of lower-limb tendon reflexes

•

en:lipid storage, mainly in type i fibers

•

en:generalized muscular appearance from birth

•

en:limb weakness and atrophy

•

en:limb-girdle muscle atrophy

•

en:lafora bodies (accumulation of polyglucosan) seen on skeletal muscle biopsy

•

en:intrasarcoplasmic dense granulofilamentous aggregates that are immunoreactive with desmin

•

en:increased fibrosis

•

en:increased connective tissue and fat in muscles

•

en:increased connective tissue (in some patients)

•

en:hypotonia, severe, neonatal

•

en:glycogen depletion in skeletal muscle

•

en:generalized weakness (adult-onset)

•

en:weakness of ankle plantar flexion

•

en:fatty deposition

•

en:abnormal mitochondrial morphology

•

en:muscle weakness, lower limbs, during exercise

•

en:necrotic and regenerating fibers

•

en:myogenic profile on electromyography

•

en:myoclonic spasms

•

en:myasthenias

•

en:muscle weakness in forearm muscles

•

en:muscle weakness after cooling or on warming affected muscle

•

en:muscle weakness (in some patients)

•

en:muscle weakness (hcs)

•

en:muscle weakness, severe, diffuse

•

en:muscle weakness, mild, proximal and distal

•

en:muscle spasticity

•

en:nonspecific myopathy

•

en:muscle pain (in some patients)

•

en:muscle mounding

•

en:muscle hypertonia

•

en:muscle cramps at rest

•

en:muscle cramps (also seen in some heterozygotes)

•

en:muscle biopsy shows type 2 fiber atrophy

•

en:muscle biopsy shows 'spheroid bodies' in type 1 muscle fibers

•

en:muscle biopsy may show deficiency of multiple mitochondrial respiratory complexes

•

en:muscle biopsy in acute stage shows increased numbers of abnormal mitochondria

•

en:muscle atrophy later in the disease

•

en:necrotic changes (finding)

•

en:normal neonatal period may occur before weakness is apparent

•

en:mtdna deletions seen on muscle biopsy

•

en:severe form shows absence of spontaneous activity at birth

•

en:weakness worsened by activity

•

en:abnormal variation in fiber type seen on muscle biopsy

•

en:weakness and wasting of the lower limbs

•

en:variable fiber size

•

en:usually no myopathic changes on biopsy

•

en:tubulofilamentous nuclear or cytoplasmic inclusions on biopsy

•

en:tubular aggregates seen on muscle biopsy

•

en:swelling of the affected areas

•

en:skeletal muscle damage

•

en:severe muscle wasting and atrophy, primarily in the legs

•

en:repetitive compound muscle action potentials (cmap) in response to single stimulus

•

en:normal or increased abdominal adipose tissue

•

en:reduced muscle mass

•

en:reduced miniature endplate potential (mepp) amplitude

•

en:reduced ankle dorsiflexion

•

en:proximal muscle weakness, limb-girdle distribution

•

en:proximal muscle weakness

•

en:proximal amyotrophy

•

en:prominent involvement of the quadriceps femoris muscles

•

en:pharyngeal muscle weakness

•

en:pelvic girdle muscle atrophy

•

en:patients achieve independent ambulation, but may lose it

•

en:muscle atrophy, mild, more proximal than distal

•

en:nonspecific myopathic changes seen on biopsy (in some patients)

•

en:mri of the calves shows fatty atrophy with preservation of the medial gastrocnemius in the posteromedial compartment

•

en:decreased acetylcholine receptors (achr) at endplate junctional folds (less common)

•

en:dystrophic features and atrophic fibers seen on muscle biopsy

•

en:dystrophic changes seen on skeletal muscle biopsy

•

en:dorsal and flexor muscles of the forearm are involved

•

en:distal muscle weakness in lower limbs, severe

•

en:distal muscle wasting, mild

•

en:distal lower limb muscle weakness

•

en:deficiency of mitochondrial complexes i, iii, and iv

•

en:defects in mitochondria respiratory activities, mainly complexes i, ii, and iv

•

en:decreased quantal release

•

en:decreased activity of mitochondrial complexes i and iv seen on skeletal muscle biopsy

•

en:cranial muscles spared

•

en:electromyography shows myotonic discharges

•

en:cox-negative fibers

•

en:congenital muscular dystrophy (disorder)

•

en:congenital absence of gluteal muscles

•

en:changes in sarcoplasmic reticulum and t-tubules

•

en:centralized myonuclei

•

en:cellulitis in lower limbs, recurrent

•

en:atrophy of upper girdle muscles

•

en:atrophy of type 1 and type 2 fibers

•

en:mitochondrial dna depletion, severe

•

en:atrophy, mild (in some cases)

•

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

•

en:edema is present at birth and then slowly decreases

•

en:decreased muscle action potential after warming affected muscle

•

en:minicore regions are poorly defined and do not extend through entire fiber length

•

en:hypotonia (untreated hypothyroidism)

•

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

•

en:loss of subcutaneous adipose tissue primarily in gluteal region and lower limbs

•

en:enlarged nuclei with central pallor

•

en:lipid droplets seen on muscle biopsy

•

en:lack of integrin alpha-7 staining

•

en:internal nuclei seen on biopsy (in some patients)

•

en:increased variation in fiber size seen on muscle biopsy

•

en:increased muscle tone (early in life)

•

en:increased connective tissue

•

en:inclusions show positive immunostaining for sqstm1 and ubiquitin

•

en:increased mitochondria seen on muscle biopsy

•

en:hypotonia, severe, persistent

•

en:generalized neonatal hypotonia

•

en:exercise-induced weakness

•

en:hypotonia, neonatal (in some patients)

•

en:fibromyalgia

•

en:foot dorsiflexor weakness

•

en:fat pads on the hands and feet

•

en:hamstring muscle affected

•

en:hyaline inclusion

•

en:hypotonia, generalized, severe

•

en:muscle fiber necrosis

•

en:myotonia, cold-sensitive, predominantly of face, tongue, forearm, and hand precipitated by muscle cooling or cold exposure or rest after exercise

•

en:myotonia is present in majority of cases

•

en:muscle weakness of the face and neck, mild to moderate

•

en:myotonia (delayed muscle relaxation after contraction)

•

en:muscle weakness and atrophy, progressive

•

en:muscle weakness, limb-girdle (lower and upper limbs may be affected)

•

en:muscle weakness, distal, particularly affecting the hands

•

en:muscle wasting, severe, primarily in the legs

•

en:muscle strength and bulk is preserved

•

en:muscle mri shows fatty infiltration

•

en:mri shows increased signal intensity in affected muscles consistent with fatty infiltration

•

en:multiple mitochondrial dna deletions

•

en:muscle fiber atrophy, profound (rare)

•

en:muscle biopsy shows type i fiber predominance

•

en:muscle biopsy shows peripheral accumulation of abnormal mitochondria

•

en:muscle biopsy shows mitochondrial paracrystalline inclusions

•

en:muscle biopsy shows intranuclear tubulofilamentous inclusions

•

en:muscle biopsy shows increased variation in fiber size

•

en:muscle biopsy shows hypotrophy of type 1 muscle fibers

•

en:muscle biopsy shows abnormal mitochondria

•

en:muscle aches, cramps

•

en:mtdna depletion seen on muscle biopsy

•

en:necrosis and degeneration seen on muscle biopsy

•

en:mri shows fatty replacement

•

en:myotonic discharges in the absence of clinical myotonia seen on emg

•

en:type 1 fiber atrophy seen on muscle biopsy

•

en:normal or decreased facial and neck adipose tissue

•

en:sarcoplasmic accumulation of electron-dense granulofilamentous material

•

en:weakness of the extensor muscles of the hands (initially)

•

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

•

en:velopharyngeal muscle weakness

•

en:type ii fiber predominance

•

en:tubular aggregates seen on biopsy

•

en:tortuous lymphatic tracts

•

en:swelling of the extremities, episodic

•

en:some abnormal aggregation of mitochondria

•

en:smooth muscle may also become involved

•

en:small or absent axon terminals

•

en:severe disability within 20 years of onset

•

en:relatively preserved limb strength

•

en:numerous vacuole-like areas

•

en:reduced lower limb subcutaneous fat

•

en:rectus medial atrophy

•

en:quadriceps atrophy (later onset)

•

en:proximal upper limb amyotrophy

•

en:proximal muscle weakness and atrophy (may occur later)

•

en:progression to wheelchair in fourth decade

•

en:preserved junctional structure seen on muscle biopsy

•

en:positive staining for atpase activity at ph of 4.3

•

en:peroneal muscle weakness

•

en:percussion-induced rapid rolling muscle contractions (pirc)

•

en:pectoralis hypoplasia

•

en:mitochondrial dna depletion (20 to 35% of normal) seen on skeletal muscle biopsy

•

en:amyloid deposition in muscle fibers occurs rarely

•

en:lymphedema of lower limbs (in some patients)

•

en:decreased lactate clearance from muscle after exercise (reported in 1 patient)

•

en:distal muscle weakness and atrophy of upper and lower limbs due to peripheral neuropathy

•

en:distal muscle weakness (first affects anterior leg muscles, then posterior leg muscles)

•

en:disruption of the m-line

•

en:difficulty walking and climbing stairs

•

en:difficulty rising from chair

•

en:difficulty raising arms

•

en:dependent edema after excess fat has been present for several years

•

en:decremental cmap response to repetitive nerve stimulation seen on emg

•

en:decreased muscle mitochondrial aconitase

•

en:decreased muscle mass (predominantly in lower extremities)

•

en:decreased lipoic acid

•

en:decreased achr at the endplate

•

en:dystrophic changes occur later

•

en:combined oxidative phosphorylation deficiency, complexes i and iv

•

en:chronic neurogenic changes seen on emg

•

en:calf atrophy (later onset)

•

en:calcific tendinitis

•

en:attacks last 4 to 24 hours

•

en:atrophic muscle fibers

•

en:affected muscles show atrophy

•

en:absence of laminin alpha-2 chain in muscle

•

en:abnormal mitochondrial proliferation

•

en:'sloping' shoulders due to muscle atrophy

•

en:muscle soft, tissue

•

en:distal muscle weakness due to peripheral neuropathy

•

en:easily fatigued (finding)

•

en:lower limb muscle atrophy (in 2 of 3 families)

•

en:increased internal nuclei seen on muscle biopsy

•

en:lipodystrophy

•

en:limb muscle weakness, proximal, upper and lower

•

en:limb-girdle muscular dystrophy

•

en:limb-girdle muscle weakness, proximal, upper greater than lower

•

en:lack of facial subcutaneous fat

•

en:lack of adipose tissue on limbs and femorogluteal regions

•

en:jitter

•

en:increased variation in fiber size (in some patients)

•

en:increased numbers of abnormally-shaped mitochondria in subsarcolemmal areas

•

en:increased muscle tone at birth

•

en:increased mitochondria with abnormal cristae

•

en:increased fatigability

•

en:edema at birth

•

en:inclusion body myopathy

•

en:impaired heel-walking

•

en:hyporeflexia in affected muscles

•

en:hyaline plaques with absent oxidative activity

•

en:hang weakness

•

en:frequent falls

•

en:foot extensor muscle weakness (later onset)

•

en:flaccid neck

•

en:facial diplegia

•

en:emg shows polyphasic continuous motor unit discharges

•

en:emg shows increased insertion activity and fibrillation

•

en:emg and muscle biopsy shows chronic denervation of the peripheral nerves

•

en:winged scapula

•

en:secondary loss of achr from junctional folds seen on muscle biopsy

•

en:abnormal fat accumulation in the back (in some patients)

•

en:muscle weakness following prolonged exercise

•

en:pelvic muscle involvement occurs later

•

en:pectoralis major hypoplasia

•

en:painful muscle cramps

•

en:normal alpha-glucosidase or acid maltase activity (gaa, 606800)

•

en:neonatal hypotonia

•

en:nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic)

•

en:myopathy in approximately 45% of patients

•

en:myopathic features seen on biopsy

•

en:myofibromatosis

•

en:myalgia (in some patients)

•

en:muscle weakness restricted to the upper limb

•

en:muscle weakness begins proximally

•

en:plaques immunoreactive for desmin and alpha-beta-crystallin

•

en:muscle weakness (affecting lower proximal extremities, abdominal wall, and iliopsoas muscle)

•

en:muscle weakness, proximal and distal

•

en:muscle weakness, proximal, lower limbs (upper limbs may become affected later)

•

en:muscle cramp

•

en:muscle biopsy shows small rounded fibers

•

en:muscle biopsy shows small, membrane-bound vacuoles predominantly in type 2 fibers

•

en:muscle biopsy shows neurogenic angulated fibers

•

en:muscle biopsy shows necrotic and atrophic fibers with centralized nuclei

•

en:muscle biopsy shows increased subsarcolemmal vacuolar glycogen accumulation

•

en:muscle biopsy shows hypoglycosylation of alpha-dystroglycan

•

en:muscle biopsy shows atrophy

•

en:peroneal muscle weakness and atrophy due to peripheral neuropathy

•

en:poor head control

•

en:muscle atrophy appears later in disease course

•

en:subsarcolemmal accumulation of normal mitochondria (in some patients)

•

en:abnormal size and shape of synaptic endplates

•

en:weakness of ankle and toe extensor (dorsiflexor) muscles

•

en:variable deficiencies of mitochondrial respiratory chain complexes i, iii, and iv

•

en:vacuoles are autophagocytic

•

en:vacuolar degeneration

•

en:underdeveloped muscles (in some patients)

•

en:truncal hypotonia (family a)

•

en:thick palmar fascia

•

en:thickening of fascia of forearm

•

en:tetany

•

en:tenderness of lower extremities

•

en:streaming of the z-disk seen on electron microscopy

•

en:postexercise cmap amplitude facilitation

•

en:stiffness

•

en:some subcutaneous adipose tissue may remain on upper arms

•

en:some patients become wheelchair-dependent

•

en:small, angulated muscle fibers seen on muscle biopsy

•

en:shortened acetylcholine receptor (achr)-induced ion channel opening

•

en:secondary decrease of calpain-3 (capn3, 114240) protein expression in muscle

•

en:scapuloperoneal weakness

•

en:rigidity (uncommon)

•

en:ragged red fibers (in some patients)

•

en:proximal muscle weakness more severe than distal muscle weakness

•

en:protein aggregates immunopositive for actin and desmin

•

en:progressive widening of synaptic clefts that are filled with amorphous debris seen on muscle biopsy

•

en:muscle biopsy shows angular atrophic fibers with granulovacuolar material (in some patients)

•

en:subsarcolemmal hyaline bodies in 25-30% type i fibers only

•

en:muscle atrophy (variable)

•

en:decreased activity of cytochrome c oxidase seen on muscle biopsy

•

en:difficulty running or inability to run

•

en:difficulty running

•

en:delayed ambulation

•

en:deep rerouting of lymph in lower limbs seen on lymphoscintigraphy

•

en:decreased shank muscle mass

•

en:decreased numbers of postsynaptic nerve terminals at the neuromuscular junction

•

en:decreased muscle mass in the thighs

•

en:decreased muscle mass (especially in lower limbs)

•

en:decreased glycosylation of alpha-dystroglycan (dag1, 128239)

•

en:decreased cytochrome c oxidase staining

•

en:decreased caveolae in muscle tissue

•

en:decreased activities of mitochondrial-encoded respiratory chain complexes

•

en:distal muscle weakness

•

en:contractures of distal lower limbs

•

en:axial muscle weakness

•

en:autophagic vacuoles with multilamellar structures seen on electron microscopy

•

en:autophagic rimmed vacuoles

•

en:atrophic calf muscles

•

en:arm/shoulder muscle hypoplasia

•

en:angulated atrophic fibers

•

en:amyotrophy, distal, upper and lower limbs

•

en:absence of telethonin protein

•

en:muscle atrophy (in some patients)

•

en:absence of caveolin-3 staining

•

en:distal atrophy of the legs

•

en:atrophic muscle fiber on biopsy

•

en:distal muscle weakness, lower legs

•

en:increased lipid droplets and abnormal mitochondria

•

en:mild muscle weakness

•

en:distal muscle weakness, predominantly affecting the lower limbs

•

en:multiple mitochondrial dna (mtdna) deletions seen on muscle biopsy

•

en:mildly decreased cytochrome c oxidase activity

•

en:marked muscular hypertrophy

•

en:lymphoscintigraphy shows impaired lymphatic uptake and drainage

•

en:lipoatrophic appearance

•

en:limb-girdle myopathy

•

en:lack of antigravity movements (patient b)

•

en:involves upper and lower proximal muscles

•

en:increased staining for myotilin, dystrophin, desmin

•

en:lipohypoplasia, regional

•

en:increased fatigue

•

en:focal loss of cross- striations

•

en:imaging shows muscle atrophy and fatty replacement

•

en:emg may show neurogenic changes

•

en:emg shows myopathic and neurogenic changes

•

en:facial muscle atrophy of involved side

•

en:edema, subcutaneous, generalized

•

en:fatigue

•

en:focal lymphocytic and macrophage infiltrates on biopsy

•

en:gluteal hypoplasia

•

en:hypotonia, mild (1 patient)

•

en:hypotonia, truncal and appendicular

•

en:distal muscle weakness of the upper limbs (in some patients)

•

en:muscle weakness, proximal and distal, affecting upper and lower limbs

•

en:muscle fibers contain internal nuclei

•

en:muscle fatigability

•

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

•

en:muscle biopsy shows myofibrillar myopathy

•

en:muscle biopsy shows glycogen storage

•

en:muscle biopsy shows dystrophic features (later in disease course)

•

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

•

en:lymphedema, dorsa of feet

•

en:muscle atrophy, severe

•

en:muscle atrophy, primarily in the legs

•

en:multiple rimmed vacuoles seen on biopsy (in some patients)

•

en:mitochondrial paracrystalline inclusion bodies

•

en:many fibers with internal nuclei

•

en:lower limb muscle weakness (in 2 of 3 families)

•

en:lower limb atrophy

•

en:muscle weakness of limb

•

en:loss of subcutaneous and visceral adipose tissue, mild

•

en:localized cellulitis

•

en:muscle weakness (type i)

•

en:rhabdomyolysis

•

en:muscular fasciculation

•

en:rhabdomyolysis, episodic and recurrent

•

en:type 2 muscle fiber predominance

•

en:lipid and glycogen accumulation

•

en:tubular aggregates mainly in type 1 fibers

•

en:tetanus-like muscle contractions

•

en:symptoms may be induced by heat

•

en:small miniature endplate potentials (mepp)

•

en:skeletal muscle biopsy showed mitochondrial complex i deficiency (1 family)

•

en:rounded, atrophic fibers (family a)

•

en:rhabdomyolysis (in some patients) endocrine : hypogonadotropic hypogonadism (rare)

•

en:reduced subcutaneous fatty tissue

•

en:myopathic changes, nonspecific, seen on muscle biopsy

•

en:proximal muscle weakness (120270.0002)

•

en:proliferation of fatty tissue in muscle (in some patients)

•

en:pectoralis muscles may be less involved, leading to inward shrugging posture

•

en:no facial muscle involvement

•

en:normal sensation

•

en:nemaline rods (rare)

•

en:myotonia improves with continued activity ('warm-up phenomenon')

•

en:myopathic changes seen on biopsy

•

en:myopathic changes on pathology

•

en:lipoma

•

en:decreased coenzyme q10

•

en:increased centralized internal nuclei

•

en:atrophy of neck muscles may occur later

•

en:decreased activity of respiratory complex i+iii

•

en:decreased achilles reflex

•

en:cellulitis or infection may occur

•

en:calf muscle pseudohypertrophy

•

en:biopsy shows deposition of complement proteins c5b-9 of the membrane attack complex on muscle fibers or in vacuoles

•

en:biopsy shows defects in pyruvate oxidation

•

en:a subset of patients have aggravation on cold exposure ('cold paresis')

•

en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise

•

en:atrophy, neurogenic muscular

•

en:decreased glycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:apoptotic nuclei

•

en:adipose tissue shows many adipocytes with multiple small lipid droplets rather than a normal single lipid droplet

•

en:absence of muscle pseudohypertrophy

•

en:absence of immunostaining for alpha-dystroglycan (family a)

•

en:absence of collagen vi immunostaining

•

en:abnormal mitochondria

•

en:abnormal iron deposition in mitochondria

•

en:abnormal aggregation of mitochondria

•

en:variably decreased activities of mitochondrial respiratory complexes i, ii, and iv

•

en:decreased density of calcium release units

•

en:decreased mitochondrial respiratory activities (in some patients)

•

en:hypotonia (patient b)

•

en:episodic, nonerythematous, nonpruritic, nontender edema, episodic

•

en:hypotonia, axial, severe

•

en:hyporeflexia or areflexia

•

en:hypertonia late

•

en:gowers sign (in some patients)

•

en:generalized muscle weakness (less common)

•

en:gait, drop foot

•

en:fiber-type variability

•

en:fatty replacement in hip muscles and proximal muscles of the lower limb seen on mri

•

en:exercise capacity decreased

•

en:enlarged terminal cisternae of the sarcoplasmic reticulum

•

en:decreased postsynaptic areas of clefts and folds seen on muscle biopsy

•

en:emg shows neurogenic changes

•

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

•

en:distal muscle weakness of the lower limbs secondary to peripheral neuropathy

•

en:distal limb muscle atrophy due to peripheral neuropathy (lower limbs are more affected than upper limbs)

•

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

•

en:difficulty running and jumping

•

en:dermal or subcutaneous infiltrate of spindle-shaped cells arranged in a whorled pattern seen on histology

•

en:denervation of skeletal muscles

•

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

•

en:upper limb muscle weakness may be more severe than lower limb weakness

•

en:greater sartorius involvement than gracilis involvement seen on mri

•

en:weakness of the muscles in the anterior compartment of the lower leg (particularly the tibialis anterior muscle)

•

en:muscle biopsy shows neurogenic changes

•

en:myotonia is usually not seen

•

en:myopathic findings on biopsy have been occasionally reported

•

en:myopathic changes early in disease seen on emg

•

en:myofibrillar disorganization

•

en:muscle weakness may affect upper limbs

•

en:muscle wasting in lower limbs

•

en:muscle pain with exercise (in older patients)

•

en:muscle pain and cramps following exercise

•

en:muscle biopsy shows decrease or absence of cytochrome c oxidase

•

en:necrotic and atrophic fibers with centralized nuclei

•

en:muscle biopsy shows cytochrome c oxidase-negative fibers

•

en:multiple mitochondrial respiratory enzymes deficiencies seen on biopsy

•

en:motor delay

•

en:mitochondria are placed at the periphery of muscle fibers

•

en:mild distal muscle atrophy

•

en:lymphography shows hypoplasia of lymphatic vessels

•

en:lymphedema of the extremities

•

en:lymphedema

•

en:loss of facial adipose tissue

•

en:neck flexor weakness

•

en:nuclear clumps

•

en:lipid accumulation in muscle tissue

•

en:shortening of various muscle-tendon groups in legs

•

en:weak extraocular muscles

•

en:weakness of neck extensors (rare)

•

en:type ii fiber atrophy seen on muscle biopsy

•

en:type 2 fiber hypertrophy

•

en:type 1 fiber atrophy

•

en:tubular aggregates in type 2 skeletal muscle fibers

•

en:tendon tears

•

en:slowly progressive limb-girdle myopathy

•

en:shoulder weakness

•

en:replacement of myofibers with connective tissue

•

en:panniculitis

•

en:relative muscle weakness, especially in pelvic girdle

•

en:redundancy of basal lamina with accumulated debris

•

en:quadriceps atrophy

•

en:proximal weakness

•

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

•

en:prolonged rise and decay of miniature endplate potentials (mepp)

•

en:preservation of visceral, neck, and axillary fat pads

•

en:polyglucosan accumulation

•

en:paradoxical myotonia (myotonia increases with exercise)

•

en:loss of achr

•

en:retroperitoneal fibrosis (rare)

•

en:limb muscle weakness and atrophy, distal, neurogenic

•

en:biopsy of adipose tissue shows reduced adipocyte size

•

en:depletion of mitochondrial dna

•

en:defective mitochondrial oxidative phosphorylation of multiple enzymes

•

en:decreased mitochondrial respiratory complexes i and iv

•

en:decreased mitochondrial complex v activity

•

en:cytoplasmic inclusion bodies (finding)

•

en:cores contain densely packed myofilaments

•

en:congophilic inclusions

•

en:biopsy shows myopathy without vacuoles

•

en:biopsy shows degenerative changes consistent with myopathy

•

en:axial hypotonia (in some patients)

•

en:disorganized myofilaments seen on muscle biopsy

•

en:attacks relieved by potassium administration

•

en:attacks may present during or after sleep

•

en:amyotrophy of the lower limbs (in some patients)

•

en:adiposis on mri

•

en:accumulated lipid droplets seen on muscle biopsy

•

en:absence of immunostaining for alpha- and beta-dystroglycan (family b)

•

en:absence of gamma-sarcoglycan protein

•

en:abnormalities in myofibril organization

•

en:knee and hip flexor weakness due to peripheral neuropathy

•

en:diastasis recti

•

en:anasarca

•

en:distal muscle atrophy (1 patient)

•

en:hypoglycosylation of alpha-dystroglycan seen on muscle biopsy

•

en:isolated necrotic fibers

•

en:internal nuclei

•

en:dysarthria

•

en:increased variability of fiber size seen on muscle biopsy

•

en:increased internal nuclei in skeletal muscle fibers

•

en:increased fibrosis (family a)

•

en:inability to jump or squat

•

en:hypotonia from birth to age 12

•

en:hypotonia (patient a)

•

en:increased focal mitochondrial density

•

en:emg shows high-frequency spontaneous discharges

•

en:generalized muscle weakness, particularly affecting the limbs

•

en:generalized limb muscle atrophy

•

en:dystrophic changes

•

en:fiber size variation (in some patients)

•

en:extensive fatty infiltration on biopsy

•

en:exercise intolerance (less common)

•

en:exercise-induced muscle cramps

•

en:edema

•

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

•

en:increased internal nuclei (in some patients)

•

en:muscle biopsy shows nonspecific myopathic changes

•

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

•

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

•

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

•

en:muscle biopsy shows decreased glycosylation of alpha-dystroglycan (dag1, 128239)

•

en:mild variability in muscle fiber size

•

en:muscle atrophy, especially quadriceps and forearm muscles

•

en:mitochondrial dna deletion (1 patient)

•

en:minipolymyoclonus

•

en:mild muscle atrophy in forearm muscles

•

en:lymphography shows increased number of dilated lymphatic vessels (hyperplasia)

•

en:limb muscular atrophy

•

en:myasthenic syndrome (hcs)

•

en:infantile axial hypotonia

•

en:muscle weakness lower limb

•

en:protein aggregates resembling myofibrillar myopathy may be present

•

en:myofibromatosis affecting skin, muscle, bone, and viscera

•

en:proximal muscle weakness, less severe

•

en:replacement of affected muscle tissue with fatty tissue

•

en:inclusions are dnajb6-immunoreactive

•

en:relative sparing of the rectus femoris

•

en:reduced muscle tone but normal power

•

en:proximal muscle weakness occurs later

•

en:proximal muscle weakness, mild (in some patients)

•

en:proximal muscle involvement may occur

•

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

•

en:prolonged miniature endplate currents

•

en:premature exertional muscle weakness

•

en:peripheral edema

•

en:pain or cramping during sustained manual activity

•

en:nonspecific myopathic changes without dystrophic or inflammatory changes seen on muscle biopsy

•

en:nonspecific muscle fiber atrophy

•

en:myopathy seen on emg

•

en:increased fat and fibrous tissue

•

en:decreased mitochondria

•

en:impaired toe-walking

•

en:central cores seen on muscle biopsy

•

en:decreased glycosylation of alpha-dystroglycan

•

en:decreased endplate potential and amplitudes

•

en:decreased coenzyme q10 levels in muscle

•

en:decreased activities of mitochondrial complexes i, ii, and iii

•

en:cytochemical and em muscle studies show large, bizarre mitochondria in striated muscle

•

en:cox-negative fibers seen on muscle biopsy

•

en:centrally located nuclei seen on muscle biopsy

•

en:decreased numbers of type 2b fibers

•

en:calf hypertrophy (in some patients)

•

en:buffalo hump

•

en:axial weakness

•

en:attacks usually decrease or disappear after age 40 years

•

en:alimentary edema

•

en:abnormal z bands

•

en:shortening of flexor profundus muscle-tendon unit

•

en:decreased muscle density on imaging

•

en:deep finger muscle weakness

•

en:hypotonia, neonatal and later

•

en:extensor finger muscle weakness

•

en:hypotonia, generalized (in some patients)

•

en:hypoplasia of latissimus dorsi muscle

•

en:humeroperoneal weakness and atrophy

•

en:hip girdle muscle weakness (usually presenting symptom)

•

en:hemihypertrophy of right arm and leg (rare)

•

en:generalized hypotonia due to defect at the neuromuscular junction

•

en:fatty infiltration seen on muscle biopsy

•

en:evidence of reinnervation seen on emg (1 family)

•

en:degenerating fibers

•

en:emg shows fasciculations

•

en:emg shows chronic denervation

•

en:electron microscopy showed z-disk streaming

•

en:dystrophic features seen on muscle biopsy

•

en:distal muscles may be affected

•

en:deltoid muscle hypoplasia

•

en:delayed motor development (cvs+)

•

en:respiratory distress (congenital form)

•

en:coenzyme q10 deficiency

•

en:shoulder girdle muscle weakness and atrophy, progressive

•

en:muscle biopsy shows multiple mitochondrial dna (mtdna) deletions

•

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

•

en:muscle weakness, congenital

•

en:muscle hypertrophy may occur

•

en:muscle fibers may contain abnormal polysaccharide

•

en:muscle biopsy with small a-fibers, increased pas-positive material, and ringbinden (disoriented myofibrils)

•

en:muscle biopsy shows pas-positive glycogen-containing vacuoles

•

en:muscle biopsy shows enlargement of type i muscle fibers, consistent with denervation

•

en:muscle weakness of proximal and distal upper and lower limbs

•

en:muscle biopsy shows dystrophic pattern

•

en:muscle atrophy, upper and lower limbs

•

en:muscle atrophy, proximal and distal (predominant lower limb involvement)

•

en:muscle amyotrophy

•

en:mri shows increased connective tissue and fat

•

en:mitochondrial dna depletion (in some)

•

en:mitochondrial complex iii deficiency (disorder)

•

en:muscle weakness is predominantly of extremities and tongue

•

en:myopathy, mild to severe

•

en:lymphedema of lower extremity

•

en:soft tissue vascular malformations

•

en:weakness

•

en:virtually no active movement at birth (wws)

•

en:variation in skeletal muscle fiber diameter

•

en:variability in fiber size

•

en:skeletal myopathy

•

en:subsarcolemmal accumulations of abnormally shaped mitochondria seen on electron microscopy

•

en:ring fibers

•

en:myotonia, potassium-sensitive (may be responsive to acetazolamide)

•

en:rhabdomyolysis may occur

•

en:red-ragged fibers (2p21del)

•

en:pseudoathletic appearance with prominent muscles before disease onset

•

en:poor muscle build

•

en:pelvic girdle weakness

•

en:no dystrophic changes

•

en:neurogenic changes later in disease seen on emg

•

en:marked lack of adipose tissue

•

en:symptoms are progressive for a few years, and then become stationary

•

en:low maximum workload on exercise testing

•

en:buffalo hump (rare)

•

en:decreased distal reflexes

•

en:decreased cytochrome c oxidase (cox) activity and protein

•

en:decreased activities of complexes i, iii, and iv, variable

•

en:chronic denervation seen on emg

•

en:centrally nucleated skeletal muscle fibers

•

en:calf muscle weakness

•

en:atrophy of the lower leg muscles

•

en:decreased miniature endplate potential (mepp) and current (mepc)

•

en:absence of merosin in muscle

•

en:abnormal fat pad, buttocks and upper thighs (in some patients)

•

en:wasting of calf muscles (rare)

•

en:tremor of the upper limb

•

en:subsarcolemmal hyaline bodies in type 1 fibers only

•

en:spasm

•

en:lower and upper limbs affected

•

en:decreased exercise tolerance

•

en:subsarcolemmal nemaline bodies (rods) on gomori trichrome staining

•

en:decreased or absent ankle reflexes

•

en:flaccid weakness or paralysis, episodic attacks

•

en:difficulty in toe walking

•

en:increased fatty infiltration

•

en:hypertonicity (uncommon)

•

en:hand and foot weakness

•

en:giant granules in muscle cells

•

en:generalized muscle weakness, severe

•

en:inability to stand or walk (in severe cases)

•

en:firm muscles

•

en:disruption of the sarcolemmal membrane seen on muscle biopsy

•

en:difficulty walking up stairs

•

en:enlarged vesicles of sarcoplasmic reticulum origin

•

en:levator palpebrae superioris atrophy

•

en:distal limb muscle weakness and atrophy

•

en:easy fatigability with exercise

•

en:distal muscle weakness and atrophy

•

en:distal muscle weakness and atrophy may occur, upper and lower limbs affected

•

en:muscle weakness, distal and proximal, lower limbs (1 family)

•

en:muscle weakness, episodic

•

en:muscle weakness, limb-girdle, mild

•

en:muscle weakness, variable

•

en:muscular atrophy

•

en:muscular dystrophy (in 1 of 3 patients)

•

en:myopathic pattern seen on emg

•

en:myopathic changes seen muscle biopsy

•

en:normal histopathology seen on muscle biopsy (in some patients)

•

en:myotonia

•

en:myotonia is most pronounced in the extremities

•

en:nemaline rods (in some patients)

•

en:neonatal edema (in some patients)

•

en:muscle hypertrophy (meb)

•

en:myotonia (usually occurs during rapid voluntary muscle movements after a period of rest)

•

en:mitochondrial proliferation

•

en:muscle hematoma

•

en:muscle fibers are immunoreactive for desmin and vimentin

•

en:muscle biopsy shows sarcoplasmic pas-positive vacuoles

•

en:muscle biopsy shows nonspecific myopathic changes without dystrophic or inflammatory changes

•

en:muscle biopsy shows dystrophic features

•

en:muscle aches, intermittent

•

en:muscles become hard and tender during exercise

•

en:mallory-like bodies

•

en:lymphedema, hands (rare)

•

en:lower limb muscle hypotrophy

•

en:loss of subcutaneous fat, generalized

•

en:loss of sarcomeric striations

•

en:loss of independent ambulation around age 12 years

•

en:lipoatrophy of trunk

•

en:no lipodystrophy in face and neck

•

en:normal or increased truncal adipose tissue

•

en:skeletal muscle shows decreased sarcoglycan proteins

•

en:no staining for oxidative enzymes

•

en:signs of denervation seen on biopsy

•

faiblesse de muscle

•

en:wide variation in fiber size

•

en:weakness of the anterior tibial muscle and toe extensors

•

en:weakness of anterior compartment tibial muscles

•

en:vacuoles containing neutral lipids seen on muscle biopsy

•

en:vacuolar myopathy

•

en:upper limb involvement may occur later

•

en:type i fibers with large, irregularly polygonal congophilic hyaline masses and nemaline rods consistent with nonlysosomal protein degradation

•

en:tubular aggregates mainly in type 2 fibers and are subsarcolemmal or intermyofibrillar and stain for nadh-tetrazolium reductase

•

en:toe and foot dorsiflexor weakness

•

en:thin filament shortening and disorganization (in some patients)

•

en:symmetrical, proximal limb muscle atrophy (pelvic, scapular, trunk muscles)

•

en:soft fleshy palms (50%)

•

en:skeletal muscle tissue shows 14 to 45% depletion of mitochondrial dna (mtdna)

•

en:shoulder girdle weakness

•

en:partial lipodystrophy (abnormal distribution of adipose tissue)

•

en:severely decreased or absent lamp2 protein

•

en:secondary myopathic changes

•

en:secondary loss of merosin and desmin

•

en:rupture of muscle

•

en:rhabdomyolysis, episodic

•

en:reduced subcutaneous adipose tissue

•

en:rectus fascia separation

•

en:progression to proximal muscle weakness

•

en:preserved junctional folds

•

en:positive staining for complement c5b-9 membrane attack complex proteins within vacuoles, but not on muscle fiber membrane

•

en:poor sarcomeric structure (in some patients)

•

en:poor muscle mass

•

en:peroneal muscle atrophy

•

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

•

en:limb-girdle muscle weakness

◀

Génériques

[F] [H]

›

en:lipid

• Mathieu Lafourcade • LIRMM (données libres en Creative Commons - C0 domaine public) •

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7118388 • caches: c1=78 c2=2151 c3=814

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