Congenital muscular dystrophy in Israeli families.
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.
Rachmiel
Marianna
M
Pediatric Neurology Unit, Asaf Harofe Medical Center, Zerifin, Israel.
Nevo
Yoram
Y
Lahat
Eli
E
Kutai
Miriam
M
Harel
Shaul
S
Shahar
Eli
E
D000911:Antibodies, Monoclonal / Q000276:immunology; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000453:epidemiology; D003402:Creatine Kinase / Q000097:blood; D003598:Cytoskeletal Proteins / Q000172:deficiency; D016189:Dystrophin / Q000276:immunology; D005260:Female; D006801:Humans; D007223:Infant; D007557:Israel / Q000453:epidemiology; D007797:Laminin / Q000378:metabolism; D008297:Male; D008562:Membrane Glycoproteins / Q000172:deficiency; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital* / Q000453:epidemiology* / Q000378:metabolism; D012131:Respiratory Insufficiency / Q000453:epidemiology; D049031:Sarcoglycans
D000911:Antibodies, Monoclonal; D003598:Cytoskeletal Proteins; D016189:Dystrophin; D007797:Laminin; D008562:Membrane Glycoproteins; D049031:Sarcoglycans; D003402:Creatine Kinase