Diko : en:some patients report seasonal variation in symptoms

en:some patients report seasonal variation in symptoms

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Nom, GNDET:

Informations lexicales

Langue:anglais

Informations sémantiques

source:wiki

Liens externes

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umls:C3805525

Associations d'idées

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50+

en:hearing loss affects all frequencies

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

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

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en:some patients show a favorable response to sulfonylurea treatment

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en:progressive clinical course with onset in childhood

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en:precipitated by general anesthesia

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en:poor response to l-dopa

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en:severe ambulatory restriction

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en:virtually all patients with this condition are female

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en:precipitated by fatigue or alcohol

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en:visual impairment is present at birth and is progressive

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en:variable age at onset, first to second decades

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

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

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

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en:some patients may present with myopathic features

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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:multiple prenatal fractures

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en:slight male predominance (3:2)

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en:some patients show improvement during summer or with fever

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en:some patients may not present until adulthood

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

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en:precipitated by fever

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en:sudden death within first days of life

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en:subtype 3a comprises myoclonus and dementia

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

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patients ▷

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en:subset of patients have leigh syndrome (256000)

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patient ▷

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en:premature aging syndrome

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

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en:variable phenotype, particularly with regard to cortical malformations

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

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en:possible x-linked dominant inheritance

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en:variable features present

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en:some ▷?

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

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en:variable expression

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en:some patients may lose independent ambulation

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en:prevalence of true hypoprothrombinemia is 1 in 2 million

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en:skeletal and facial features are variable

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en:sensorineural hearing loss may be presenting feature

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en:recurrent bacterial infection

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

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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:presence of additional features is variable

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en:prevalent among the amish

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50+

malformation congénitale

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en:congenital abnormality

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anomalie congénitale

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en:congenital anomaly

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déficience congénitale

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déformation congénitale

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en:congenital defect

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septicémie du nouveau-né

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en:neonatal sepsis

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maladie congénitale

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septicémie néonatale

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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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arthralgie

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douleur dans une articulation

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douleur articulaire

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algie 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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vice de conformation

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en:teratosis

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en:major physical defect

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en:heterozygote may have elevated serum phosphate and elevated serum 1,25-dihydroxycholecalciferol

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en:stokes-adams syndrome

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en:majority die in neonatal period secondary to respiratory insufficiency

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en:breech presentation

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en:death from pneumonia

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en:retinal holes were present in an asymptomatic female carrier

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en:manifestations continue to appear until 5th decade

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en:onset in first decade (as early as infancy in some)

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en:marked intrafamilial variability of clinical features

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en:incomplete penetrance in some families

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en:approximately 50% of patients have situs inversus

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en:high risk of recurrence after surgery

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en:hyperlipidemia may be partially responsive to fat-restricted diet

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en:intrafamilial variability in severity of hypothyroidism

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en:majority of patients are ambulatory

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anomalie du développement

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présentation du siège

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en:physical defect

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en:males are most severely affected, but females can also be affected

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en:estimated frequence 1/3000 to 1/5000

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Génériques

[F] [H]

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en:some ▷?

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=8037504 • caches: c1=8 c2=102 c3=765

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