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.
