Details of Disease

General Information of Disease (ID: DIS3E3YO)

• Disease Name: Neuronopathy, distal hereditary motor, autosomal recessive 5
• Synonyms: DSMA5; spinal muscular atrophy, distal, autosomal recessive, 5; dSMA5; young adult-onset distal hereditary motor neuropathy; Young adult-onset dHMN; autosomal recessive distal spinal muscular atrophy type 5; spinal muscular atrophy, distal, autosomal recessive, type 5
• Definition: Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.
• Disease Hierarchy:
  DISVJU8N: Neuronopathy, distal hereditary motor, autosomal recessive
  DISTLKOB: Spinal muscular atrophy
  DIS3E3YO: Neuronopathy, distal hereditary motor, autosomal recessive 5
• Disease Identifiers:
  MONDO ID: MONDO_0013947
  UMLS CUI: C4749918
  OMIM ID: 614881
  MedGen ID: 1667915
  Orphanet ID: 314485
  SNOMED CT ID: 771475006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VWA1	OTKDZNZO	Supportive	Autosomal recessive	[1]
DNAJB2	OTZHPV5M	Strong	Autosomal recessive	[2]

References

• [1] An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. Brain. 2021 Mar 3;144(2):584-600. doi: 10.1093/brain/awaa420.
• [2] A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. Ann Neurol. 2012 Apr;71(4):509-19. doi: 10.1002/ana.22684.