SCN4-related centronuclear myopathy (SCN-CNM)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

SCN4-related centronuclear myopathy (SCN-CNM). Facial and neck weakness, Ptosis, Proximal weakness, Axial hypotonia. Fully referenced neurology checklist.

Muscle features

  • Facial and neck weakness
  • Ptosis
  • Proximal weakness
  • Axial hypotonia
  • Respiratory impairment
  • Swallowing difficulties

Skeletal features

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Perinatal features

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Magnetic resonance imaging (MRI) muscle atrophy: sites

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Muscle biopsy: features

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References

  1. Zaharieva IT, Thor MG, Oates EC, et al. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. Brain 2016; 139:674-691. 
  2. Gonorazky HD, Marshall CR, Al-Murshed M, et al. Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A. Neuromuscul Disord 2017; 27:574-580. 
  3. Mercier S, Lornage X, Malfatti E, et al. Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A. Neurology 2017; 88:414-416.

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