Conditions / Genetic
neurodegeneration with brain iron accumulation 6
info · Genetic · ICD-10: G23.0
A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2.
Signs and symptoms
- Dystonia
- Motor axonal neuropathy
- Intellectual disability
- Gait disturbance
- Dysarthria
- Tip-toe gait
- Bradykinesia
- Distal amyotrophy
- Rigidity
- Neurodegeneration
Also known as: COASY protein-associated neurodegeneration; CoPAN; NBIA6; Neurodegeneration with brain iron accumulation due to COASY mutation