Nemaline Myopathy

Abstract

NEMALINE MYOPATHY, first described by Shy et al in 1963,¹ is a muscle disease of presently undetermined etiology. Previously reported cases have shown mild to moderate muscle weakness. The present case differs in the severity and widespread distribution of the disease. It is the first reported case with severe involvement of the muscles of deglutition and respiration and the first fatal case to be reported. Report of a Case A 3-month-old white boy, was admitted to The New York Hospital in August 1965 for evaluation of hypotonia and failure to gain weight. The patient was the product of a normal full-term pregnancy. Intrauterine activity was comparable to the mother's previous two pregnancies. Birth at another hospital was reported as normal. The birth weight was 3,657 gm (8 lb 1 oz). During the first 24 hours of life cyanosis was noted. On examination, respiratory and cardiac systems were normal. Respiratory