First descriptions of cases of congenital myopathy linked to the dystonin gene

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An international consortium of researchers including experts from the Institute of Myology reports the identification of a new form of early-onset congenital myopathy linked to the DST gene encoding dystonin:

  • 19 patients from 14 unrelated families were identified following high-throughput sequencing studies in a context of diagnostic uncertainty.
  • The clinical phenotype was quite severe from birth, with cases of arthrogryposis associated with cardiomyopathy and early deaths (7 before the age of three) being particularly frequent.
  • Nine patients required ventilatory support.
  • Histological lesions were fairly non-specific in this group.
  • Nine variants of dystonin isoform b were detected.

The authors also report four other patients with pathogenic variants in other dystonin isoforms and propose a new classification of neuromuscular phenotypes associated with this gene.

 

Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy. Jacob M, Kölbel H, Harrer P et al. Brain. 2025 Jun.

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