Nonaka distal myopathy

Evidence-based neurology checklist on nonaka distal myopathy: Genetics This is caused by mutations in the GNE gene on chromosome 9 The gene regulates salicylic acid synthesis The transmission is autosomal recessive or sporadic The mutation results in hyposialylation The onset age is around 20-30…

Genetics

  • This is caused by mutations in the GNE gene on chromosome 9
  • The gene regulates salicylic acid synthesis
  • The transmission is autosomal recessive or sporadic
  • The mutation results in hyposialylation
  • The onset age is around 20-30 years

Early weakness

Later weakness

Other features

Differential diagnosis

Muscle biopsy

Other investigations

Synonyms

References

  1. Malicdan MCV, Noguchi S, Nishino I. Recent advances in distal myopathy with rimmed vacuoles (DMRV) or hIBM: treatment perspectives. Curr Opin Neurol 2008; 21:596-600.
  2. Nalini A, Gayathri N, Dawn R. Distal myopathy with rimmed vacuoles: report on clinical characteristics in 23 cases. Neurol India 2010; 58:235-241.
  3. Mastaglia FL, Laing NG. Distal myopathies: clinical and molecular diagnosis and clarification. JNNP 1999; 67:703-709.
  4. Huizing M, Krasnewich DM. Hereditary inclusion body myositis: a decade of progress. Biochim Biophys Acta 2009; 1792:881-887.
  5. Argov Z, Eisenberg I,  Grabov-Nardini G, et al. Hereditary inclusion body myopathy: the Middle Eastern genetic cluster. Neurology 2003; 60:1519-1523.
  6. And 8 more. Subscribe to see the full list

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