Summary
Epidemiological data on Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) from a large sample of the Italian population are reported. For BMD the incidence rate was found to be 5.5x10-5 liveborn males (lbm) and the prevalence rate, 13.1x10-6; the mutation rate was estimated to be about 6.0x10-6. For DMD the incidence and prevalence rates were found to be respectively 26x10-5 lbm and 31.6x10-6. The DMD mutation rate obtained by the Haldane formula was 86.6x10-6 and by the semi-direct method, 65.6x10-6. The results are discussed in the light of possible allelism of BMD and DMD.
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References
Becker PE (1955) Eine neue X-chromosomale Muskeldystrophie. Acta Psychiatr Neurol Scand 193:427
Danieli GA (1984) Studies on the prevalence of the Duchenne muscular dystrophy genotype at birth. In: Ten Kate LP, Pearson PL, Stadhouders AM (eds) Research into the origin and treatment of Muscular Dystrophy. (Current clinical practice series, no 20) Excerpta Medica, Amsterdam, pp 17–32
Dorkins H, Junien C, Mandel J, Wrogemann K, Moison JP, Martinez M, Old JM, Bundey S, Schwartz M, Carpenter N, Hill D, Lindlof M, De la Chapelle A, Pearson PL, Davies KE (1985) Segregation analysis of a marker localised Xp21.2–21.3 in Duchenne and Becker muscular dystrophy families. Hum Genet 71:103–107
Emery AEH (1969) Genetic counselling in X-linked muscular dystrophy. J Neurol Sci 8:579–587
Emery AEH (1976) Methodology in medical genetics: an introduction to statistical methods. Churchill Livingstone, Edinburgh
Emery AEH, Skinner R (1967) Clinical studies in benign Becker type X-linked muscular dystrophy. Clin Genet 10:189–201
Fadda S, Mochi M, Roncuzzi L, Sangiorgi S, Sbarra D, Zata M, Romeo G (1985) Definitive localization of Becker muscular dystrophy in Xp by linkage to a cluster of DNA polymorphisms (DXS43 and DXS9). Hum Genet 71:33–36
Gardner-Medwin D (1970) Mutation rate in Duchenne type of muscular dystrophy. J Med Genet 7:334–337
Goodfellow PM (1986) Duchenne muscular dystrophy. Collaboration and progress. Nature 322:12–13
Haldane JBS (1956) Mutation in the X-linked recessive type of muscular dystrophy. A possible sex difference. Ann Hum Genet 20:344–347
Hausmanova-Petrusewicz I, Borkowska J (1978) Intrafamilial variability of X-linked progressive muscular dystrophy. J Neurol 218: 43–50
Jackson RC, Taylor BD, Zellweger H, Bianchine JW (1974) Muscular dystrophy: Duchenne type and Becker type within a kindred. Am J Hum Genet 26:44A
Kunkel LM, et al (1986) Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature 322:73–77
Lucci B, Marcello N, Guidetti D, Motti L, Solimé F, Baron C, Bejato L, Angelini C (1984) Myometry and function tests in the longitudinal study of Duchenne muscular dystrophy patients. Cardiomyology 3:107–115
Monaco AP, Bertelson CJ, Middlesworth W, Colletti CA, Aldridge J, Fischbeck KH, Bartlett R, Pericak-Vance MA, Roses AD, Kunkel LM (1985) Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature 316:342–345
Nigro G, Comi LI, Limongelli FM, Guigliano MAM, Politano L, Petretta V, Passamano L, Stefanelli S (1983) Prospective study of X-linked progressive muscular dystrophy in Campania. Muscle Nerve 6:253–262
Roncuzzi L, Fadda S, Mochi M, Prosperi L, Sangiorgi S, Santamaria R, Sbarra D, Besana D, Morandi L, Rocchi M, Romeo G (1985) Mapping of X-linked Becker muscular dystrophy through crossovers identified by DNA polymorphisms and by haplotype characterization in somatic cell hybrids. Am J Hum Genet 37:407–417
Scott OM, Goddard C, Dubowitz V (1982) Quantitation of muscle function in children: a prospective study in Duchenne muscular dystrophy. Muscle Nerve 5:291–301
Spiegler AWJ, Hermann FH (1983) Erfassung und humangenetische Betreuung von Risikofamilien mit progressiver Muskeldystrophie der Typen Duchenne (DMD) und Becker-Kiener (BMD) im Bezirk Erfurt. Dtsch Gesundheitswesen 38:994–1000
Spiegler AWJ, Hausmanova-Petrusewicz I, Borkowska J, Hermann FH (1987) Atypical form of X-linked proximal pseudohypertrophic muscular dystrophy. J Neurol 234:163–171
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Mostacciuolo, M.L., Lombardi, A., Cambissa, V. et al. Population data on benign and severe forms of X-linked muscular dystrophy. Hum Genet 75, 217–220 (1987). https://doi.org/10.1007/BF00281062
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DOI: https://doi.org/10.1007/BF00281062