Myotonia Atrophica: Histopathologic Considerations

Abstract

Myotonia atrophica is a definite morbid entity embodying some of the clinical features of myotonia congenita, progressive degenerative myopathies, and extramuscular dystrophies (cataracts, baldness and other anomalies). There is a disproportion between the pathologic and clinical features, and the histologic changes are not specific, being similar to those seen in myotonia congenita and paramyoclonus multiplex. They differ from those of the inflammatory and degenerative diseases of muscles. The disease is a metabolic disturbance which results in abnormal muscular activity that ultimately brings about pathologic changes.