Term Name: | autosomal recessive distal hereditary motor neuronopathy 5 |
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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 ) |