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 )

Relationships
is a type of: autosomal recessive distal hereditary motor neuronopathy