Nonaka distal myopathy
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Nonaka distal myopathy. This is caused by mutations in the GNE gene on chromosome 9. Fully referenced neurology checklist.
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
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Later weakness
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Other features
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Differential diagnosis
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Muscle biopsy
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Other investigations
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Synonyms
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References
- 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.
- Nalini A, Gayathri N, Dawn R. Distal myopathy with rimmed vacuoles: report on clinical characteristics in 23 cases. Neurol India 2010; 58:235-241.
- Mastaglia FL, Laing NG. Distal myopathies: clinical and molecular diagnosis and clarification. JNNP 1999; 67:703-709.
- Huizing M, Krasnewich DM. Hereditary inclusion body myositis: a decade of progress. Biochim Biophys Acta 2009; 1792:881-887.
- Argov Z, Eisenberg I, Grabov-Nardini G, et al. Hereditary inclusion body myopathy: the Middle Eastern genetic cluster. Neurology 2003; 60:1519-1523.
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