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Congenital Muscular Dystrophy in Israeli Families

Pediatric Neurology Unit Asaf Harofe Medical Center, Zerifin

Yoram Nevo, MD

The Institute for Child Development and Pediatric Neurology Unit Dana Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, and Sackler Faculty of Medicine, Tel Aviv University, Israel, Nevo{at}tasmc.health.gov.il

Eli Lahat, MD

Pediatric Neurology Unit Asaf Harofe Medical Center, Zerifin

Miriam Kutai, MD

Pediatric Neurology Clinic Haemek Medical Center, Afula

Shaul Harel, MD

The Institute for Child Development and Pediatric Neurology Unit Dana Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, and Sackler Faculty of Medicine, Tel Aviv University, Israel

Eli Shahar, MD

Pediatric Neurology Unit Rambam Medical Center, Haifa

Twelve patients from 11 Israeli families with congenital muscular dystrophy were evaluated between 1991 and 2001. There were six males and six females, of whom six were merosin negative and six were merosin positive. Serum creatine kinase levels were highly elevated in the merosin-negative group. Four of the children were cognitively normal but nonambulant. Two had unusual clinical findings of severe cognitive and motor developmental dysfunction. Four infants in the merosin-positive group who had normal serum creatine kinase levels had early-onset severe motor weakness and died within the first year of life owing to ventilatory insufficiency. The other two were ambulant and had normal cognitive development and elevated serum creatine kinase levels. Noteworthy, two of the six children with merosin-negative congenital muscular dystrophy had cognitive impairment, and four of the six children with merosin-positive congenital muscular dystrophy had a severe form of the disease with ventilatory insufficiency and death during infancy. (J Child Neurol 2002;17:333-336).

Journal of Child Neurology, Vol. 17, No. 5, 333-336 (2002)
DOI: 10.1177/088307380201700504


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