Conditions / Genetic
neurodegeneration with brain iron accumulation 4
info · Genetic · ICD-10: G23.0
A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12.
Signs and symptoms
- Optic atrophy
- Babinski sign
- Abnormal pyramidal sign
- Parkinsonism
- Dysarthria
- Generalized dystonia
- Abnormal lower motor neuron morphology
- Elevated circulating creatine kinase activity
- Dystonia
- Distal amyotrophy
Also known as: MPAN; Mitochondrial Protein-Associated Neurodegeneration; NBIA due to C19orf12 mutation; NBIA4; Neurodegeneration with brain iron accumulation due to C19orf12 mutation