Diko : en:a subset of patients improve with thiamine

en:a subset of patients improve with thiamine

Catégories

Nom, GNDET:

Informations lexicales

Langue:anglais

Informations sémantiques

_INFO-SEM-NODET

Liens externes

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umls:C1839433

Associations d'idées

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50+

en:premature aging syndrome

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en:some patients have resolution of symptoms in first year of life

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en:prevalence estimated at 1 in 50,000

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en:subset of patients have leigh syndrome (256000)

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en:sensorineural hearing loss may be presenting feature

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en:variable age of onset (7-59 years)

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en:some patients with advanced loss of vision have normal eog

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en:recurrent bacterial infection

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en:some patients may show a favorable response to oral coenzyme q10 supplementation

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en:slight male predominance (3:2)

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en:visual impairment is present at birth and is progressive

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en:variable features present

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en:presence of additional features is variable

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en:symptoms precipitated by stress, exertion, fatigue, alcohol

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anomalie congénitale

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en:variable age at onset (late childhood to adult)

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en:some patients show a favorable response to sulfonylurea treatment

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en:prevalence of true hypoprothrombinemia is 1 in 2 million

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en:precipitated by general anesthesia

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en:phenotypic variation (may affect language expression, reception, and/or articulation)

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en:possible x-linked dominant inheritance

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en:symptoms precipitated by alcohol, caffeine, fatigue, stress, exertion, ovulation, menstruation

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patients ▷

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en:small placenta

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patient ▷

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en:usually symptomatic in adulthood with history of weakness since infancy or childhood

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en:variable expression

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en:skeletal and facial features are variable

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en:some patients may present with myopathic features

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en:a

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en:precipitated by fatigue or alcohol

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en:some patients never gain ambulation or become wheelchair-bound

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en:six patients have been reported (as of october 2011)

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en:severe ambulatory restriction

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en:variable age at onset, first to second decades

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en:subtype 3a comprises myoclonus and dementia

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en:virtually all patients with this condition are female

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en:progressive clinical course with onset in childhood

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en:presentation in children - diarrhea, constipation (rarely), short stature, pubertal delay, rickets, iron and folate deficiency with anemia

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en:congenital abnormality

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en:syncope ▷?

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en:variable age of onset (range 4 months to 45 years)

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en:variable phenotype, particularly with regard to cortical malformations

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en:sudden death within first days of life

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en:prevalent among the amish

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en:poor response to l-dopa

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en:short survival (less than 10 years after onset)

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en:some patients may not present until adulthood

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50+

anomalie congénitale

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en:congenital abnormality

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malformation congénitale

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en:congenital anomaly

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en:congenital defect

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déformation congénitale

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déficience congénitale

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septicémie du nouveau-né

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septicémie néonatale

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en:neonatal sepsis

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maladie congénitale

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pathologie congénitale

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difformité congénitale

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mort du nouveau-né

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mort néonatale

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en:neonatal death

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en:arthralgia

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douleur dans une articulation

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algie articulaire

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arthralgie

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douleur articulaire

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en:congenital malformation

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en:birth defect

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polyhydramnios

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en:polyhydramnios

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en:joint pain

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tare congénitale

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en:broad-based gait

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élargissement du polygone de sustentation

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vice de conformation

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en:wide-based gait

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en:major physical defect

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en:physical defect

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létal

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en:stokes-adams syndrome

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anomalie du développement

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en:recurrent bacterial infection

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en:average onset of seizures 6 months (range 3-12)

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en:intrafamilial phenotypic variation may occur

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en:late-onset, slowly progressing form of retinitis pigmentosa

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en:Stokes-Adams syndrome

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en:teratosis

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en:male to female ratio is greater than 3:1

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en:initially normal rod responses may become significantly reduced at older age

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en:fatal before age 2 years

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en:opportunistic infection

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en:based on report of 2 individuals (last curated november 2013)

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en:anemia is responsive to corticosteroid treatment

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en:death from pneumonia

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en:diagnosis requires 3 major features (a positive family history is also considered a major feature) and at least 3 minor features

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Génériques

[F] [H]

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* en:a

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=6945280 • caches: c1=160 c2=1208 c3=1290

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