Leber plus disease

Orpha code: 99718OMIM code: 500001

Definicja

A rare inherited mitochondrial disease characterized by the clinical features of Leber hereditary optic neuropathy in combination with other systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, motor and sensory peripheral neuropathy, spasticity, mild encephalopathy, and cardiac arrhythmias.

Disease data
Klasyfikacja

Disease

Synonimy
LHON plus disease
LHON plus disease
Kod ORPHA
99718
Kod OMIM
500001
Kod ICD10
H47.2
Kod ICD11
-

No additional description.

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