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Congenital Myopathies in Israeli Families

Sourasky Medical Center, Tel-Aviv

Yehuda Shapira, MD

Pediatric Neurology Unit, Hadassah Hebrew University Medical Center, Jerusalem

Benjamin Glick, MD

Neuromuscular Clinic, Alyn Pediatric Rehabilitation Hospital, Jerusalem

Tally Lerman-Sagie, MD

Pediatric Neurology Unit, Wolfson Medical Center, Holon

Eli Shahar, MD

Pediatric Neurology Unit, Rambam Medical Center, Haifa

Helly Goez, MD

Child Development Center Rakati, Tiberias

Miriam Kutai, MD

Pediatric Neurology Unit, Haemek Hospital, Afula Israel

Yoram Nevo, MD

Pediatric Neurology Unit, Hadassah Hebrew University Medical Center, Jerusalem, nevo{at}hadassah.org.il

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).

Key Words: congenital myopathies • Israel

Journal of Child Neurology, Vol. 22, No. 6, 732-736 (2007)
DOI: 10.1177/0883073807304193


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