Disease association ontology term - MONDO:0957874 - neuronopathy, distal hereditary motor, autosomal recessive 9
Term summary
- ID
- MONDO:0957874
- Name
- neuronopathy, distal hereditary motor, autosomal recessive 9
- Ontology or CV name
- Disease association
- Definition
- A rare autosomal recessive distal hereditary motor neuropathy caused by a mutation in the COQ7 gene, characterized by severe, slowly progressive, symmetric distal muscle weakness and atrophy of the limbs predominantly due to length-dependent peripheral motor neuropathy. Both the lower and upper limbs are affected, with a lower-limb predominance at onset. Patients present with walking difficulties and frequent falls. Pes cavus may also be present. Sensory abnormalities are usually absent, or mild when present.
