Distal myopathies

Distal myopathies are frequently encountered in the Nordic countries, and a re now being increasingly recognized elsewhere, Three new descriptions of d istal myopathy phenotypes have been published in the past year. At the same time there has been considerable progress in molecular genetics and in und erstanding the molecular pathophysiology underlying distal myopathies. Memb rane-associated dysferlin, which was the first gene in which mutations were identified, is shown to cause a distal phenotype. The ability to make a mo lecular diagnosis has increased awareness of dysferlinopathy-Miyoshi myopat hy. Since most entities have been linked to specific chromosomal foci, it i s likely that other distal myopathies will soon be better recognized by the ir molecular genetic definitions. Curr Opin Neurol 14:561-566. (C) 2001 Lip pincott Williams & Wilkins.