autosomal recessive distal hereditary motor neuronopathy 5

Term ID

DOID:0111214

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. (2)

References

• OMIM:614881
• ORDO:314485

Ontology

Human Disease   ( DOID:0111214 )