go back

FRIEDREICH ATAXIA (FRDA)

FRIEDREICH ATAXIA (FRDA)
FRDA
229300
OMIM = Online Mendelian Inheritance of Men
95
Frataxin, mitochondrial
9q21.11
G11.1
rare (1:50.000)
autosomal recessive
Laboratory findings    Pyruvate carboxylase dec (liver)
Symptoms    areflexia
    ataxia
    cardiomyopathy
    cardiomyopathy, hypertrophic
    defect of walking, running, rising or climbing
    diabetes mellitus
    dysarthria
    ECG abnormalities [-]
    Glucose tolerance, impaired
    hearing defect, deafness
    hypertonia, spasticity
    muscle weakness
    nystagmus
    onset, adolescent
    onset, childhood
    optic atrophy
    peripheral neuropathy
    skeletal changes, skeletal abnormalities
    skoliosis, kyphoskoliosis