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

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

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C1836744

Associations d'idées

[F]

›

50+

en:variable presentation of clinical features

•

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

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en:skin neoplasia may appear later in life

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en:significant phenotypic variability

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en:rapidly progressive, but slower than creutzfeldt-jakob disease (123400)

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en:poor response to acetylcholinesterase inhibitors

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en:polyps occur in teens

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en:patients develop acute symptoms under physiologic stress due to illness

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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 the 3rd decade of life or later

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en:onset in infancy or late childhood

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en:onset in fourth and fifth decades

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en:one patient reported (last curated november 2012)

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en:one family reported (last curated november 2011)

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en:nonrandom association of following anomalies--v (vertebral anomalies), a (anal atresia), c (cardiovascular anomalies), t (tracheoesophageal fistula), e (esophageal atresia), r (renal anomalies), l (preaxial limb anomalies)

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en:some patients may live to adulthood

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en:more than half of patients develop retinal detachments and/or retinoschisis later in life

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en:male-to-female ratio, 1.8 to 1

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en:highly variable severity of muscle weakness

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en:genetic heterogeneity (see bafme2, 607876)

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en:death in childhood occurs without bone marrow transplantation

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en:death frequent in severe infantile form

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en:childhood or adolescent onset, protracted, with myopathy and neuropathy

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en:based on report of 2 turkish sisters (last curated july 2015)

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en:autosomal recessive inheritance has been reported in 1 family

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en:autosomal recessive cytochrome b-positive cgd, type ii (233710)

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en:asymptomatic if papillary zone is spared

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en:1 in 17,000 in china

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en:variable age of onset

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en:some patients can attend special school

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en:one family has been reported and no additional clinical features were provided (last curated june 2013)

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en:symptoms improve following sleep

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

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en:symptoms precipitated by sudden movement, stress, exertion, fatigue' attacks typically last for hours

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en:sudden cardiac death frequent in affected families

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en:striking intrafamilial variability

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en:some patients have only ocular involvement or only oral involvement

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en:primarily diagnosed in females

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en:presents at a later age than sporadic wilms tumor

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en:presenting symptoms - recurrent uti, polyuria/polydipsia, hematuria, and abacterial leukocyturia

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en:presence of additional features is variable

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en:patients with later onset have better prognosis

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en:patients may show intermittent signs of improvement

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en:patients may have recurrent infections due to immunosuppressive therapy

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en:patients have severe anemia requiring regular transfusions for normal activity

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en:perinatal death

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en:mulibrey is an acronym (muscle, liver, brain, and eyes)

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en:autosomal recessive inheritance with earlier onset has been reported in 3 patients

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▶

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6945144 • caches: c1=20 c2=116 c3=39

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