| FRIEDREICH ATAXIA (FRDA) | |
| FRDA | |
|
229300
OMIM = Online Mendelian Inheritance of Men | |
|
95 | |
| Frataxin, mitochondrial | |
| 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 |