Conditions / Syndrome
Leber hereditary optic neuropathy and dystonia
info · Syndrome
A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I.
Signs and symptoms
- Visual loss
- Skeletal muscle atrophy
- Dysphagia
- Bradykinesia
- Scoliosis
- Abnormality of eye movement
- Leber optic atrophy
- Dystonia
- Dysarthria
- Increased circulating lactate concentration
Also known as: LDYT; Leber optic atrophy and dystonia; Leber optic atrophy with dystonia; Marsden syndrome; familial dystonia with visual failure and striatal lucencies