title: Respiratory muscle dysfunction in myotonia congenita.
abstract: A patient with myotonia congenita (Thomsen's disease) presented with unpleasant sensations of tightness in the chest and dyspnea, which were maximal at the beginning of exercise and gradually improved as exercise progressed. Lung function tests and maximal static respiratory pressures were within normal limits. Precise electromyographic (EMG) and mechanical studies, however, demonstrated the increased excitability, impaired relaxation, and transient weakness of the respiratory muscles. These studies thus indicate that myotonia congenita may involve the respiratory muscles to the same extent as any other skeletal muscle, and that precise EMG studies are occasionally useful in determining the organic basis of respiratory symptoms.
mesh_terms: D000293:Adolescent; D004417:Dyspnea / Q000150:complications; D004576:Electromyography; D006801:Humans; D008297:Male; D009132:Muscles / Q000503:physiopathology*; D009224:Myotonia Congenita / Q000150:complications / Q000503:physiopathology*; D005082:Physical Exertion; D012137:Respiratory System / Q000503:physiopathology*