/neuronopathy, distal hereditary motor, autosomal recessive 5

neuronopathy, distal hereditary motor, autosomal recessive 5

Rare Disease

MONDO:0013947

Also Known As

DSMA5Young adult-onset dHMNautosomal recessive distal spinal muscular atrophy type 5dSMA5spinal muscular atrophy, distal, autosomal recessive, type 5young adult-onset distal hereditary motor neuropathyspinal muscular atrophy, distal, autosomal recessive, 5

Definition

Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.