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Improved diagnosis of Becker muscular dystrophy by dystrophin testing

Division of Genetics, Howard Hughes Medical Institute, Children's Hospital, and Pediatrics, Harvard Medical School, Boston, MA (Drs. Hoffman and Kunkel)
Neurological Clinic, Padua, Italy (Dr. Angelini)
Muscular Dystrophy Group Laboratories, Newcastle General Hospital, Newcastle Upon Tyne, Great Britain (Drs. Clarke, Johnson, and Harris).

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 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.

Address correspondence and reprint requests to Dr. Kunkel, The Children's Hospital, 300 Longwood Avenue, Boston, MA 02115.

Supported by the Muscular Dystrophy Association and National Institutes of Health (L.M.K.), and the Muscular Dystrophy Group of Great Britain and the Medical Research Council (A.C., M.J., J.B.H.). L.M.K. is an associate investigator of the Howard Hughes Medical Institute.

Received March 28, 1989. Accepted for publication in final form April 28, 1989.

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