Diko : en:distinct from pseudopili annulati (613241)

en:distinct from pseudopili annulati (613241)

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C3277475

Associations d'idées

[F]

›

50+

en:upper limb involvement in first decade

•

en:female to male ratio, 1:1

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en:onset in the second decade and by age 50 is severe in high and middle frequencies and moderate at low frequencies

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en:onset in early childhood (infancy to 6 years)

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en:onset in adolescence or young adulthood has been reported

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

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en:one family has been reported (as of april 2012)

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en:not all patients have facial dysmorphism

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en:most patients are from finland

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en:may coexist with autoimmune vitiligo or thyroiditis

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en:marked phenotypic variability, even within an individual

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en:genetic anticipation associated with progressive telomere shortening

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en:four cases have been reported, all female

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en:feeding difficulties, including aspiration, ameliorate with age

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en:some patients are asymptomatic and diagnosed incidentally

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en:death in utero (30%)

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en:childhood onset (range birth to 12 years)

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en:can be treated with physiologic levels of 1,25-dihydroxyvitamin d3 or 1-alpha-hydroxyvitamin d3

•

en:broad range in severity of presentation in sibships

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en:based on report of 3 unrelated children (last curated january 2016)

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en:associated with the tau (157140) h1 haplotype

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en:allelic disorder to glut1 deficiency syndrome 1 (606777)

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en:adult onset (mean 27 years)

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en:adult-onset (range early twenties to forties)

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en:95% of cases are sporadic

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en:unusual cabbage-like odor

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en:prevalence 1-2% in northern european populations

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en:female carriers may be mildly affected

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en:some patients may benefit from coenzyme q10 treatment

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en:onset in fourth decade

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en:triggered by exercise, fasting, or other metabolic stresses

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en:two sibs have been reported (last curated november 2012)

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en:treatment with enzyme replacement therapy

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en:thiamine supplementation may be beneficial

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en:stillborn or infantile death usual in prenatal form

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en:some patients have lethal fetal akinesia with death in utero

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en:see also autosomal dominant giant axonal neuropathy (610100)

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en:patients may become ventilator-dependent

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en:patients develop aortic dissection with little or no aortic enlargement

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en:onset usually in childhood (infancy to teens)

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en:onset of symptoms after age 5

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

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en:onset in fifth or sixth decade

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en:despite voluminous steatorrhea, patients' growth and overall state of health is good

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en:usually shows early age at onset (range 1 to 7 years, mean 4.6 years)

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en:variable penetrance

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en:age at onset 3 to 23 years

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en:age at onset ranges from neonatal to adulthood

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

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en:carrier females may have mild features

▶

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6945794 • caches: c1=76 c2=788 c3=619

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