Conditions / Genetic
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
info · Genetic
A dystonia that is characterized by characterized by onset of involuntary movements in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the MECR gene on chromosome 1p35. Optic atrophy develops around the s
A dystonia that is characterized by characterized by onset of involuntary movements in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the MECR gene on chromosome 1p35. Optic atrophy develops around the same time or slightly later.
Signs and symptoms
- Dysarthria
- Dystonia
- Optic atrophy
- Gait disturbance
- Involuntary movements
- Craniofacial dystonia
- Nystagmus
- Visual impairment
- Hypotonia
- Dysphagia
Also known as: DYSTONIA 29, CHILDHOOD-ONSET; DYTOABG; MECR-related neurologic disorder; MEPAN syndrome; Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration