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.