Neuronopathy, distal hereditary motor, type 2A
Neuronopathy, distal hereditary motor, type 2A
Definition
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.
Also known as HSPB8 neuronopathy, distal hereditary motor, neuronopathy, distal hereditary motor caused by mutation in HSPB8 — per MONDO