Diko : en:one family has been reported with limited clinical information (last curated october 2014)

en:one family has been reported with limited clinical information (last curated october 2014)

Catégories

Nom

Informations lexicales

Langue:anglais

Liens externes

›

umls:C4014898

Associations d'idées

[F]

›

50+

en:some patients show improvement during summer or with fever

•

en:severe ambulatory restriction

•

en:recurrent bacterial infection

•

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

•

en:sudden death within first days of life

•

en:precipitated by fever

•

en:precipitated by general anesthesia

•

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

•

en:virtually all patients with this condition are female

•

en:sensorineural hearing loss may be presenting feature

•

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

•

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

•

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

•

en:precipitated by fatigue or alcohol

•

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

•

en:subset of patients have leigh syndrome (256000)

•

en:variable features present

•

en:prevalence of true hypoprothrombinemia is 1 in 2 million

•

en:poor response to l-dopa

•

en:subtype 3a comprises myoclonus and dementia

•

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

•

en:arthralgia

•

en:premature aging syndrome

•

en:variable phenotype, particularly with regard to cortical malformations

•

en:variable age at onset, first to second decades

•

en:some patients may lose independent ambulation

•

en:some patients may present with myopathic features

•

en:one ▷?

•

en:variable expression

•

en:progressive clinical course with onset in childhood

•

en:skeletal and facial features are variable

•

en:some patients may not present until adulthood

•

en:visual impairment is present at birth and is progressive

•

en:syncope ▷?

•

anomalie congénitale

•

en:small placenta

•

en:slight male predominance (3:2)

•

en:presence of additional features is variable

•

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

•

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

•

en:some patients show a favorable response to sulfonylurea treatment

•

en:prevalence estimated at 1 in 50,000

•

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

•

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

•

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

•

en:hearing loss affects all frequencies

•

en:multiple prenatal fractures

•

en:prelingual onset

▶

‹

50+

anomalie congénitale

•

en:congenital abnormality

•

malformation congénitale

•

en:congenital anomaly

•

en:congenital defect

•

déformation congénitale

•

déficience congénitale

•

maladie congénitale

•

pathologie congénitale

•

difformité congénitale

•

septicémie du nouveau-né

•

septicémie néonatale

•

en:neonatal sepsis

•

mort du nouveau-né

•

mort néonatale

•

en:congenital malformation

•

en:neonatal death

•

en:birth defect

•

polyhydramnios

•

en:polyhydramnios

•

tare congénitale

•

en:broad-based gait

•

élargissement du polygone de sustentation

•

en:wide-based gait

•

vice de conformation

•

en:major physical defect

•

en:teratosis

•

en:physical defect

•

anomalie du développement

•

en:stokes-adams syndrome

•

en:limb malformations are variable

•

rétinite pigmentaire d'apparition tardive

•

en:Stokes-Adams syndrome

•

en:males may be more affected than females

•

en:family a had a severe multisystem disorder resulting in death before age 2 years

•

en:heterozygous mutation carriers may have late-onset of mild symptoms

•

en:slight male predominance (3:2)

•

en:individuals do not develop erythrocytosis under hypoxic conditions

•

en:20% die before age one (usually secondary to renal or laryngeal defects)

•

en:in severe attacks, hemiplegia or coma may last days to weeks

•

en:some patients may show normal early development before seizure onset

•

en:four clinically indistinguishable biochemically distinct forms (see 252900, 252920, 252930)

•

en:diurnal fluctuation

•

en:caused by inheritance of the mutation on the paternal allele (imprinting)

•

en:majority of cases are sporadic, often in tall, thin men

•

en:mean age at onset is 13 years (range 6 to 43)

•

en:osteoglophonic, derived from greek meaning hollowed out

•

présentation du siège

•

en:incidence 1 in 30,000 male births

•

létal

▶

Génériques

[F] [H]

›

en:one ▷?

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=7002805 • caches: c1=60 c2=358 c3=821

....

♥

po

la

ti

le

as

ku

co

lo

to

ta

ta

xe

po

li

?!

!?

[Vider le cache]

A propos

Champs masqués