Italian observation confirms the involvement of the p.S85C variant in distal myopathy linked to the MATR3 gene

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Distal myopathy with vocal cord palsy (or VCPDM) has only been described in twelve families around the world, including one in France. VCPDM belongs to the group of multisystem proteinopathies. Italian clinicians report the observation of a 40-year-old woman fulfilling the diagnostic criteria for this ultra-rare disease: 

  • the clinical picture shows steppage and rhinolalia, without associated pyramidal involvement;
  • muscle biopsy revealed lined vacuoles;
  • the p.S85C mutation, already reported in the other VCPDM families, has been identified in this woman and her son, asymptomatic so far.

 

First Family of MATR3-Related Distal Myopathy From Italy: The Role of Muscle Biopsy in the Diagnosis and Characterization of a Still Poorly Understood Disease. Cavalli M, Cardani R, Renna LV, et al. Front Neurol. 2021 Oct 1;12:715386

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