Spanish doctors have published the demographic, clinical, genetic and physiological data from the largest cohort of patients with distal myopathy.
- With 219 patients included, the prevalence of distal myopathy in the Spanish population (in the Valencia region) is estimated at 3.9 per 100,000.
- The patients often presented with distal or proximodistal motor weakness that appeared in adulthood (at an average age of 29).
- Pathogenic variants were identified in 68.7% of patients, involving 19 genes, eight of which (MYH7, ANO5, DYSF, TTN, MYOT, HSPB1, GNE and HNRNPDL) were involved in 85% of resolved cases.
- An overlap between myopathic and neurogenic processes was observed in some patients.
This study provides useful information to facilitate the diagnostic process in these diseases. At the same time, a French publication highlights the value of long-read sequencing techniques based on the case of a family suffering from a late-onset proximal-distal myopathy linked to a duplication of the MYOT gene.
