title: Myotonia congenita with painful muscle contractions.
abstract: We present a family with dominantly inherited myotonia congenita and painful, electrically silent muscle contractions after exertion. In two family members, painful muscle contractions occurred coincident with hypothyroidism, and improved after thyroid replacement therapy. It is probable that this family represents a disease that is similar to but distinct from the dominant form of myotonia congenita.
mesh_terms: D000328:Adult; D004576:Electromyography; D005260:Female; D006801:Humans; D007037:Hypothyroidism / Q000150:complications; D008297:Male; D009120:Muscle Cramp / Q000209:etiology* / Q000235:genetics / Q000503:physiopathology; D009224:Myotonia Congenita / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D010375:Pedigree