A study has identified 8 unrelated families, including 35 members suffering from a new form of oculopharyngodistal myopathy (OPMD) linked to the ABCD3 gene.
- This is the 5th form identified, involving people of European descent.
- The other 4 known forms (linked to the LRP12, GIPC1, NOTC2NLC and RILPL1 genes) affect people of Asian descent;
- The characteristics of the disease are typical of MOPD: ptosis in all patients, weakness of the pharynx and distal limb muscles in 70%, late onset of the disease between the 1st and 6th decades (around the age of 30 on average).
