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We assessed the quantity(relative cellular abundance)and quality (approximate molecular weight)of dystrophin in muscle biopsies from 97 patients with a diagnosis of possible Becker muscular dystrophy.Fifty-four (all male)had dystrophin abnormalities and were deemed to have true Becker muscular dystrophy.The other 43 patients(14 female,29 male)had no detectable dystrophin abnormalities.Of the dystrophin-verified Becker dystrophy patients,35%(19/54)had a family history consistent with X-linked recessive inheritance.On the other hand,none of the 43 patients with apparently normal dystrophin had a clear X-linked family history, suggesting that few of these 43 actually had a form of Becker dystrophy. The data suggest that of all patients with a clinical picture consistent with Becker dystrophy but no family history,about 60%will be true Becker patients.The correlation of both the biochemical and clinical data suggests that Duchenne/Becker dystrophy can be divided into 4 clinically useful categories:Duchenne dystrophy(wheelchair at about age 11 years; dystrophin quantity<3%of normal);severe Becker dystrophy(wheelchair age 13 to 20 years;dystrophin 3%to 10%);and moderate/mild Becker dystrophy (wheelchair>20 years;dystrophin quantity greater than or equal to 20%). Given the observed clinical variability of Becker dystrophy,it appears that dystrophin analysis is required for accurately distinguishing between Becker dystrophy and clinically similar autosomal recessive myopathies. |
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contractures,joint
creatine phosphokinase(CPK)elevated
dystrophin
electrocardiogram,abnormal
malignant hyperpyrexia
muscle biopsy
muscle pain
muscular dystrophy
muscular dystrophy,Becker
myoglobinuria
toe walking
weakness
weakness,progressive
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