The expanding clinical and genetic spectrum of the myotonic dystrophies

Core features of the dominantly inherited myotonic dystrophies are myotonia, muscle weakness and cataract. Classic myotonic dystrophy (Steinert's disease) has been defined as a genetic entity by the underlying CTG repeat expansion on chromosome 19q13.3 (= DM1 locus). Later on, another disorder similar to but different from myotonic dystrophy was described as proximal myotonic myopathy (PROMM). The majority of PROMM families have been linked to a recently discovered locus on chromosome 3q21 (= DM2 locus). - This article analyses the clinical features of 70 patients from 14 German PROMM families linked to the 3q locus. In contrast to Steiner's disease, these patients did not reveal mental deficiency; no congenital type was found; weakness was mainly located in the proximal leg muscles; clinical myotonia was very mild and sometimes absent; episodes of pain occurred In the majority of patients, the disorder seems to he more benign compared to Steinert's disease. However, life threatening cardiac involvement is possible; rarely, muscle weakness may, progress until the patient is bedridden. - Some families with a PROMM-like phenotype do not link to the locus on 3q. The group of the myotonic dystrophies will get new members in the future.