title: [Clinical and immunological observations in myotonia].
abstract: Nine patients of myotonia, 5 being myotonia dystrophica and others being myotonia congenita, were studied for their clinical manifestations and immunological function. In the cases of myotonia dystrophica, they were inherited as autosomal dominant trait; the mean age onset was 17 years. Myotonia dystrophica was a diffuse systemic disorder. In addition to myotonia, there were muscle wasting, hatchet face, frontal baldness, pseudohypertrophy, etc. In the cases of myotonia congenita, none of the parents of the patients has clinical symptoms. The mean age onset was 8 years. The disease involved mainly the skeletal muscle. The immunological functions were studied in 7 patients, including 5 myotonia dystrophica and 2 myotonia congenita. In either myotonia dystrophica or myotonia congenita, the immunological functions were impaired widely, both humoral and cellular immunity. The level of serum IgG was lowered in both diseases.
mesh_terms: D000328:Adult; D006801:Humans; D007136:Immunoglobulins / Q000032:analysis; D008213:Lymphocyte Activation; D008297:Male; D009222:Myotonia / Q000235:genetics / Q000276:immunology*
chemical_list: D007136:Immunoglobulins