Congenital Myopathies in Israeli Families

Abstract

The clinical features of 37 patients from 32 Israeli families with congenital myopathies evaluated between 1983 and 2004 are described: 13 children were diagnosed with congenital fiber type disproportion, 10 had myotubular myopathy, 7 had nemaline myopathy, 5 had central core disease, 1 had actin myopathy, and 1 had multi-minicore disease. There were 7 families (22%) that had parental consanguinity, and 4 families (12%) had more than 1 patient with congenital myopathy. Of the patients, 31 (84%) presented with clinical symptoms before 4 months of age, and 6 children (16%) presented after 1 year of age. Thirteen children (35%) had a severe phenotype with chronic ventilatory dependence or mortality before the age of 11 years. Facial weakness was associated with a severe phenotype. There was a high rate of a severe clinical phenotype in patients with myotubular myopathy (60%) and in patients with nemaline myopathy (57%), whereas in patients with congenital fiber type disproportion and in patients with central core disease, the proportion of a severe phenotype was lower (23% and 0%, respectively).