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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