Neuronopathy, distal hereditary motor, autosomal recessive 9
Neuronopathy, distal hereditary motor, autosomal recessive 9
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.
Also known as COQ7-related distal hereditary motor neuropathy, HMNR9 — per MONDO