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Human Disease

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
Ontology
Human Disease   ( DOID:0111214 )
Relationships
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Genes Involved
Zebrafish Models