Congenital nemaline myopathy: A clinical follow-up study of twelve patients

摘要: A clinical follow-up of 12 patients with congenital nemaline myopathy (CNM) is reported. The aims the study were to characterise disease further, investigate prognosis CNM and factors influencing it, find guidelines for treatment and, through neuropsychological tests, electroencephalography computed tomography head, determine whether central nervous system affected. following distribution muscular weakness was constantly found: weakest muscles facial muscles, flexors neck trunk, dorsiflexors feet extensors toes. distal limb limb-girdle clearly weaker than proximal muscles. No signs involvement detected, IQs showed a skew towards higher levels. state health had deteriorated in 10 improved 2. In addition grade activity, seemed be influenced mainly by development scoliosis restricted respiratory capacity. Since no specific therapy available this disease, recommendations management include active rehabilitation vigorous infections. Physiotherapy should focus especially on maintenance cardiorespiratory capacity prevention scoliosis. Long periods immobilisation avoided.