Diko : en:incidence of 1 in 57,000

en:incidence of 1 in 57,000

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

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umls:C2749716

Associations d'idées

[F]

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50+

en:when present, onset of vestibular dysfunction in childhood

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en:nine patients have been reported (last curated july 2015)

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en:absence seizures usually remit by puberty

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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:women affected more than men (3:2)

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en:waddling gate

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en:visual symptoms present by late childhood

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en:variable age at onset, ranges from third to fifth decade of life

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en:symptoms worsen with fatigue and exercise

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en:severe involvement of legs

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en:seizures may occur with illness

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en:reduced penetrance in females

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en:prevalence in the finnish population of 5.8 per million

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en:onset in the first hours or days of life

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en:onset between 2 and 4 years of age

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en:one family reported (last curated january 2014)

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en:mutation in pnpla6 identified in 1 laurence-moon syndrome family (last curated march 2015)

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en:allelic disorder is long qt syndrome-3 (lqt3, 603830)

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en:based on 1 5-generation family (last curated january 2015)

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en:variable age of onset (range 1-40 years)

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en:urinalysis specialist review:impression/interpretation of study:point in time:to be specified in another part of the message:narrative

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en:about half of patients report vestibular symptoms

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en:allelic disorder to charcot-marie-tooth disease type 1a (118220)

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en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900)

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en:a subgroup of patients with sponastrime dysplasia have severe mental retardation

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en:does not lead to hepatic failure

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en:mode of inheritance is unclear, x-linked recessive inheritance could not be ruled out

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en:fatal in first few months of life in most cases

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en:four major groups: early infantile, late infantile, juvenile, adult

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en:genetic heterogeneity (see cmt1b 118200)

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en:highly variable dysmorphic features

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en:individuals with the pcs trait are phenotypically normal

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en:may be exacerbated by febrile illness

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en:age of onset 5 to 40 years

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en:onset in fifties or sixties

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en:changes more marked in hands than feet

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en:skeletal and endocrine features have not been fully characterized in all of the patients reported

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en:patients have normal pituitary function

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en:progressive, with full manifestations at puberty

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en:recurrence is possible

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en:reduced exercise tolerance

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en:seizures usually occur in the first months of life

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en:seven patients from 4 families in israel have been reported (last curated july 2015)

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en:some mutation carriers have mild features of frontonasal dysplasia (613451)

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en:onset usually at birth

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en:some patients exhibit features of more than 1 type of cardiomyopathy

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en:striking intrafamilial variability

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en:symptoms present as acute metabolic and clinical decompensation associated with infection

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en:symptoms remain focal

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en:clinically resembles essential tremor, but not responsive to beta-adrenergic blockers

▶

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6946587 • caches: c1=114 c2=749 c3=394

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