Neuronopathy, distal hereditary motor, autosomal recessive 5
Neuronopathy, distal hereditary motor, autosomal recessive 5
Definition
A rare autosomal recessive distal hereditary motor neuropathy caused by a variation in DNAJB2 gene, characterized by adolescent or adult onset of slowly progressive muscle weakness and atrophy of the distal lower limbs progressing to involve also the upper limbs and proximal muscles, and sensory impairment.
Also known as autosomal recessive distal spinal muscular atrophy type 5, DNAJB2-related CMT2, DSMA5 — per MONDO