Leber plus disease
ORPHA:99718· ICD-10 H47.2
Definition
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Mitochondrial inheritance
- Age of onset
- Adolescent, Adult, Childhood, Infancy