Details of Disease

General Information of Disease (ID: DISZ3Y3Y)

• Disease Name: Neuronopathy, distal hereditary motor, autosomal recessive 4
• Synonyms: DSMA4; spinal muscular atrophy, distal, autosomal recessive, 4; dSMA4; autosomal recessive distal spinal muscular atrophy type 4; autosomal recessive lower motor neuron disease with childhood onset; distal spinal muscular atrophy type 4; spinal muscular atrophy, distal, autosomal recessive, type 4; neuronopathy, distal hereditary motor, autosomal recessive 4
• Definition: A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported.
• Disease Hierarchy:
  DISVJU8N: Neuronopathy, distal hereditary motor, autosomal recessive
  DISTLKOB: Spinal muscular atrophy
  DISZ3Y3Y: Neuronopathy, distal hereditary motor, autosomal recessive 4
• Disease Identifiers:
  MONDO ID: MONDO_0012608
  MESH ID: C567023
  UMLS CUI: C1970211
  OMIM ID: 611067
  MedGen ID: 369682
  Orphanet ID: 206580
  SNOMED CT ID: 771302009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PLEKHG5	OTL0S21W	Strong	Autosomal recessive	[1]

References

• [1] The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. Am J Hum Genet. 2007 Jul;81(1):67-76. doi: 10.1086/518900. Epub 2007 May 16.