Nemaline myopathy of severe infantile type: a case report of a 9-year-old girl
Noda, Y.; Sakai, K.; Tojo, M.; Sakuragawa, N.; Arima, M.
No to Hattatsu 22(1): 82-85
1990
ISSN/ISBN: 0029-0831 PMID: 2294955 Document Number: 353686
A girl with severe infantile type of nemaline myopathy was reported, who is still alive at the age of 9 years and 3 months. Myopathy was so severe that antigravity movement has been seen only at fingers and toes since early infancy. Skeletal muscles of extremities and lumbogluteal regions were found to be replaced by fat on CT examination. Her daily activity has been improved by speech therapy and introduction of an electric wheel chair controlled with her chin. Cor pulmonale has gradually progressed by 8 years of age, although myopathic symptoms were apparently nonprogressive. Most patients of nemaline myopathy of this type were reported to have died of respiratory insufficiency by two years of age. Our present case was probably the oldest recorded in the literature, surviving up to the age of 9 years.