Diko : en:saddle-back st-segment elevation shows beat-to-beat and day-to-day variability

en:saddle-back st-segment elevation shows beat-to-beat and day-to-day variability

Catégories

Nom

Informations lexicales

Langue:anglais

Informations sémantiques

source:wiki

Liens externes

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umls:C4229516

Associations d'idées

[F]

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50+

en:about 20% of female mutation carriers may show mild muscle weakness

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en:absence seizures show onset between 3.5 and 4 years

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

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

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en:death in majority of infants soon after birth

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en:approximately 70-80% of cases are de novo and sporadic

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en:coloboma is associated with larger microdeletion (490kb) of 11q13

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en:childhood onset

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en:cone-shaped epiphyses appear in early childhood and disappear with premature fusion of growth plate before puberty

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en:death from pneumonia

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en:clinical spectrum in males ranges from lethal neonatal onset to milder forms with first recognized episode in late childhood or even in adulthood

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en:childhood or adolescent onset (usually less than 25 years)

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en:boys are more often affected than girls (3:2)

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en:average age at diagnosis 17.8 years (range 2-35 years)

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en:age of onset/diagnosis 12-35 years

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en:both autosomal dominant and autosomal recessive inheritance has been described

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en:death before age 40

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en:death in third or fourth decades, usually due to respiratory infection

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en:diarrhea worsens in parallel with increases in severity of skin disease

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en:discordant phenotype among monozygotic twins has been reported

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en:dwarfism not detectable at birth

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en:color vision defects may not be part of the phenotype

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en:associated with hemodialysis

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en:clinical presentation varies from asymptomatic to fulminant course

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en:death in infancy secondary to respiratory insufficiency/pneumonia

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en:death may occur in infancy

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en:death in infancy in 2 patients

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en:deafness tends to occur before other neurologic signs, except in patients with very early onset

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en:early death occurs in affected infants (days to months after disease onset)

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en:diurnal fluctuation

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en:contractures other than plantar are less common and less severe

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en:clinical and biochemical abnormalities disappear with age

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en:death in perinatal period

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en:may occur in adults (also in pregnancy)

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en:adult onset has been reported

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en:allelic to diastrophic dysplasia (222600), achondrogenesis, type 1b (600972), and multiple epiphyseal dysplasia, type 4 (226900)

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en:all features are unilateral

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en:associated with increased frequency of autoimmune diseases

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en:associated with smoking

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en:adult onset (20 to 50 years)

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en:anemia is responsive to corticosteroid treatment

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en:a milder form has also been reported

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en:autosomal recessive form (277720) has also been described

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en:autosomal recessive disorder tends to be more severe

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en:may be triggered by minor head trauma

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en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise

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en:age at onset from 3 to 51 years (mean 19.2 years)

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en:congenital onset

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en:all cases sporadic (18 males, 7 females)

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en:attacks more common in women

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50+

létal

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en:lethal

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en:incidence 1/100,000 - 1/200,000 live births

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en:incidence of 1 in 1.5 million births

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en:increased risk of myeloproliferative disorders in those with somatic mutations

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en:levodopa-induced dyskinesias

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en:metabolic encephalomyopathic crises often triggered by infection

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en:age of onset of distal lower limb weakness 8-16 years

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en:facial dysmorphic features are mild

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en:inflammatory arthritis may develop in 30% of patients

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en:highly variable severity and features

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en:majority of children die before age 2

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en:estimated frequence 1/3000 to 1/5000

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rétinite pigmentaire d'apparition tardive

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en:retinitis pigmentosa

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en:may be precipitated by minor illness (e.g., viral infection, fever)

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

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en:genetic heterogeneity (see 609192)

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en:affected individuals are born with normal-appearing skin and develop scaling a few days after birth

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en:late-adult onset

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en:age of onset/diagnosis 12-35 years

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en:interfamilial and intrafamilial clinical heterogeneity

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en:incidence - 1/16,000 live births

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en:incomplete penetrance with 45 to 51 repeats

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en:bleeding is usually delayed-onset after challenge

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en:favorable response to ephedrine treatment

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en:marked heterogeneity

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en:age of onset between 5 and 10 years of age

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en:therapy is placement of implantable cardioverter defibrillator (icd)

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en:intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes (610582) to mody (616329) to impaired fasting glucose or impaired glucose tolerance

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en:median age of onset of pigmentation - 8 years (range 1-15 years)

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en:mean age at onset of migraines is 42 years

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en:hypothyroidism is less severe in individuals with high dietary iodine intake

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en:based on report of 4 patients from 1 family (last curated july 2015)

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en:attacks precipitated by hypokalemia, administration of glucose or insulin, heavy carbohydrate consumption, stress, fatigue, rest after exercise

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en:median age at diagnosis, 59 years

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en:juvenile onset 4 years to puberty

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en:infants show normal size and appearance

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en:less than 20% have onset at 18 years of age or less (dominant and recessive)

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en:late-adult onset (fifth to sixth decade)

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en:liver disease may be the most predominant finding

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en:high frequency of absence seizures (several per day)

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en:inheritance pattern is unclear

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en:majority of cases are male

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en:death in fourth to fifth decade

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en:incidence of 1 in 3,500 boys

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en:marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years)

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en:increased sensitivity to valproic acid toxicity

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

• This page link : https://www.jeuxdemots.org/diko.php?gotermid=9090963 • caches: c1=22 c2=218 c3=639

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