Congenital muscular dystrophy in Arab children.
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.
Habeeb
Yousif K R
YK
Neurology Unit, Department of Pediatrics, Mubarak Al-Kabeer Hospital, Kuwait. yhabeeb@kma.org.kw
Al-Bloushi
Maliha A
MA
Al-Jumah
Eman S
ES
De Souza
Thomas M
TM
Moosa
Allie
A
D018912:Arabs; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007797:Laminin / Q000378:metabolism; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital* / Q000208:ethnology* / Q000378:metabolism; D009431:Neural Conduction / Q000502:physiology; D010641:Phenotype; D011859:Radiography; D013127:Spinal Nerves / Q000503:physiopathology
D007797:Laminin; C102645:laminin alpha 2