This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Weiss, K. Articles by Nevo, Y. Search for Related Content PubMed PubMed Citation Articles by Weiss, K. Articles by Nevo, Y. Social Bookmarking                   What's this?

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

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?