Details of Disease

General Information of Disease (ID: DIS0ASM5)

• Disease Name: Autosomal recessive distal spinal muscular atrophy 2
• Synonyms: MNDJ; motor neuropathy, distal, Jerash type; spinal muscular atrophy, Jerash type; distal hereditary motor neuropathy, Jerash type; neuropathy, distal hereditary motor, Jerash type; HMNJ; hereditary motor neuropathy, Jerash type; spinal muscular atrophy, distal, autosomal recessive, 2; neuronopathy, distal hereditary motor, Jerash type; autosomal recessive distal spinal muscular atrophy type 2; DSMA2; dHMNJ; distal hereditary motor neuropathy Jerash type; spinal muscular atrophy Jerash type; spinal muscular atrophy, distal, autosomal recessive, type 2
• Definition: Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset).
• Disease Hierarchy:
  DISVJU8N: Neuronopathy, distal hereditary motor, autosomal recessive
  DISTLKOB: Spinal muscular atrophy
  DIS0ASM5: Autosomal recessive distal spinal muscular atrophy 2
• Disease Identifiers:
  MONDO ID: MONDO_0011585
  MESH ID: C535715
  UMLS CUI: C1854023
  OMIM ID: 605726
  MedGen ID: 344189
  Orphanet ID: 139552
  SNOMED CT ID: 763533003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SIGMAR1	TT5TPI6	Limited	Genetic Variation	[1]
SIGMAR1	TT5TPI6	Supportive	Autosomal recessive	[2]
HSPB1	TT9AZWY	Strong	GermlineCausalMutation	[3]
HSPB3	TTLH8WG	Strong	GermlineCausalMutation	[4]
HSPB8	TTY0OJN	Strong	GermlineCausalMutation	[5]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SIGMAR1	OTDORW5C	Supportive	Autosomal recessive	[2]
FBXO38	OTSZ3768	Strong	GermlineCausalMutation	[6]

References

• [1] SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.Neurology. 2016 Oct 11;87(15):1607-1612. doi: 10.1212/WNL.0000000000003212. Epub 2016 Sep 14.
• [2] A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy. Neurology. 2015 Jun 16;84(24):2430-7. doi: 10.1212/WNL.0000000000001680. Epub 2015 May 15.
• [3] Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet. 2004 Jun;36(6):602-6. doi: 10.1038/ng1354. Epub 2004 May 2.
• [4] Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach. Neurology. 2010 Feb 9;74(6):502-6. doi: 10.1212/WNL.0b013e3181cef84a.
• [5] Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nat Genet. 2004 Jun;36(6):597-601. doi: 10.1038/ng1328. Epub 2004 May 2.
• [6] A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. Am J Hum Genet. 2013 Nov 7;93(5):976-83. doi: 10.1016/j.ajhg.2013.10.006. Epub 2013 Oct 24.