autosomal recessive distal hereditary motor neuronopathy 5 (DOID:0111214)
Alliance: disease page
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
Alt IDs: OMIM:614881, ORDO:314485
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.