neuronopathy, distal hereditary motor, type 2A
Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene. The presenting symptoms are paresis of the extensor muscles of the big toe and later of the extensor muscles of the feet and chronic neurogenic alterations in electromyography.
MONDO:0015352
distal hereditary motor neuropathy type 2
is_a
HMN2A
related
HSPB8 neuronopathy, distal hereditary motor
exact
neuronopathy, distal hereditary motor caused by mutation in HSPB8
exact
neuronopathy, distal hereditary motor, type IIA
related
SPBC3E7.02c SPCC338.06c