Document Detail


Congenital muscular dystrophy in Arab children.
MedLine Citation:
PMID:  16901445     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The congenital muscular dystrophies are autosomal recessive disorders with different clinical phenotypes, the spectrum of which varies between different ethnic communities. We report our findings in 21 Arab children with congenital muscular dystrophy. All 21 cases were of the pure type, with normal mental status, except 1 case with perinatal hypoxic-ischemic insult. Fourteen were laminin alpha2 (merosin) deficient, and six were laminin alpha2 positive; laminin alpha2 status was not determined in one patient. None of the laminin alpha2-deficient patients achieved independent ambulation, whereas three of the laminin alpha2-positive patients were able to walk. The elevated levels of serum creatine kinase did not differentiate the two groups and tended to decrease after the age of 5 years. Radiologic evaluation demonstrated an abnormal central white-matter signal in 11 of 13 laminin alpha2-deficient and in 1 of 5 laminin alpha2-positive patients; none had evidence of brain dysplasia. Nerve conduction velocities were normal in 5 of 5 laminin alpha2-positive patients, whereas in the laminin alpha2-deficient patients, it was slow in 9 of 11 for the motor nerves and normal in 8 of 9 for the sensory nerve. Two of the laminin alpha2-positive patients had pseudohypertrophy of the calves, and two of the laminin alpha2-deficient ones had seizures. The patient in whom the laminin alpha2 status was not determined had a severe course, an abnormal central white-matter signal, and epilepsy and resembled more the laminin alpha2-deficient group.
Authors:
Yousif K R Habeeb; Maliha A Al-Bloushi; Eman S Al-Jumah; Thomas M De Souza; Allie Moosa
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of child neurology     Volume:  21     ISSN:  0883-0738     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2006 May 
Date Detail:
Created Date:  2006-08-11     Completed Date:  2006-10-27     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  Canada    
Other Details:
Languages:  eng     Pagination:  400-5     Citation Subset:  IM    
Affiliation:
Neurology Unit, Department of Pediatrics, Mubarak Al-Kabeer Hospital, Kuwait. yhabeeb@kma.org.kw
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MeSH Terms
Descriptor/Qualifier:
Arabs*
Brain / pathology,  radiography
Child
Child, Preschool
Female
Humans
Infant
Laminin / metabolism
Male
Muscle, Skeletal / metabolism,  pathology
Muscular Dystrophies / congenital*,  ethnology*,  metabolism
Neural Conduction / physiology
Phenotype
Spinal Nerves / physiopathology
Chemical
Reg. No./Substance:
0/Laminin; 0/laminin alpha 2

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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