neuronopathy, distal hereditary motor, autosomal recessive 5
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.
MONDO:0001516
spinal muscular atrophy
is_a
MONDO:0015363
neuronopathy, distal hereditary motor, autosomal recessive
is_a
DNAJB2-related CMT2
exact
DSMA5
exact
Young adult-onset dHMN
broad
autosomal recessive distal spinal muscular atrophy type 5
exact
dSMA5
exact
young adult-onset distal hereditary motor neuropathy
broad