Distal hereditary motor neuropathy (dHMN): genetics

Genetics

• This is distal spinal muscular atrophy (dSMA)
• Genetic mutations have been identified in only 20% of cases
• These usually involve heat shock protein (HSP) genes
• The mutations result in degeneration of spinal cord motor neurons
• The transmission is autosomal recessive or dominant

References

1. Irobi J, De Jonghe P, Timmerman V. Molecular genetics of distal hereditary motor neuropathies. Hum Mol Genet 2004; 13:R195-R202.
2. Gess B, Auer-Grumbach M, Schirmacher A, et al. HSJ1-related hereditary neuropathies: Novel mutations and extended clinical spectrum. Neurology 2014; 83:1726-1732. 
3. Rossor AM, Kalmar B, Greensmith L, Reilly MM. The distal hereditary motor neuropathies. JNNP 2012; 83:6-14.
4. Frasquet M, Chumillas MJ, Vílchez JJ, et al. Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation. JNNP 2016; 87:1265-1268.
5. Rafael M, Lacerda C, Goncalves E, Rocha S. Hereditary distal motor neuropathy due to mutation of BSCL2. Rev Neurol 2017; 64:45-47.
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Related checklists

• Distal hereditary motor neuropathy (dHMN): types
• Distal hereditary motor neuropathy (dHMN): clinical features