| LEBER OPTIC ATROPHY AND DYSTONIA (LDYT) | |
| LEBER HEREDITARY OPTIC NEUROPATHY WITH DYSTONIA; LDYT; MARSDEN SYNDROME | |
|
500001
OMIM = Online Mendelian Inheritance of Men | |
|
99718 | |
| NADH-ubiquinone oxidoreductase chain 6, NADH-ubiquinone oxidoreductase chain 4 | |
| rare mitochondrial inheritance | |
| Laboratory findings | L-Lactic acid inc (cerebrospinal fluid) L-Lactic acid inc (plasma) |
| Symptoms | athetosis dementia dysarthria dysphagia dystonia eye movements, abnormal hypertonia, spasticity hypokinesia mental retardation MRI, brain, abnormalities [-] onset, childhood optic atrophy scoliosis short stature vision loss |