neuronopathy, distal hereditary motor, autosomal recessive 9
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.
MONDO:0014754
primary coenzyme Q10 deficiency 8
is_a
MONDO:0015363
neuronopathy, distal hereditary motor, autosomal recessive
is_a
COQ7-related distal hereditary motor neuropathy
exact
HMNR9
exact
SPBC337.15c