| Term Name: | autosomal recessive distal hereditary motor neuronopathy 5 |
|---|---|
| Synonyms: | autosomal recessive distal spinal muscular atrophy type 5, distal spinal muscular atrophy type 5, DSMA5, young adult-onset dHMN, young adult-onset distal hereditary motor neuropathy |
| Definition: | An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35. |
| Ontology: | Human Disease [DOID:0111214] ( DOID:0111214 ) |