Abstract
We have investigated 67 patients with proven Becker muscular dystrophy (BMD) using a standard protocol including a detailed history and a functional and clinical examination. Our aim was to define the natural history of the disease in a large cohort of patients in the light of the diagnostic methods now available. In all patients with or without an X-linked family history, the diagnosis was confirmed by the identification of a deletion or other abnormality in the dystrophin gene, and abnormal dystrophin on immunoblotting and immunocytochemistry of muscle biopsy samples. In graphs of functional and muscle score against age, two groups of patients emerged. In the larger group the disease was milder and patients remained ambulant into their forties or beyond. A smaller group had more severe disease with a slightly earlier onset, much earlier loss of ambulation, more frequent abnormal electrocardiographic findings and much lower reproductive fitness. The relationship of these clinical findings to the genetic and protein abnormalities found in the patients is explored in the accompanying paper.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Becker PE (1962) Two new families of benign sex-linked recessive muscular dystrophy. Rev Can Biol 21:551–566
Becker PE, Keiner F (1955) Eine neue X-chromosomale Muskeldystrophie. Arch Psychiatr Nervenkrank 193:427–448
Borgeat A, Goy JJ, Sigwart U (1987) Acute pulmonary oedema as the inaugural symptom of BMD in a 19 year old patient. Clin Cardiol 10:127–129
Bradley WG, Jones MZ, Mussini JM, Fawcett PRW (1978) Becker-type muscular dystrophy. Muscle Nerve 1:111–132
Brooke MH, Fenichel GM, Griggs RC, et al (1983) Clinical investigation in Duchenne Dystrophy. II. Determination of the “power” of therapeutic trials based on the natural history. Muscle Nerve 6:91–103
Bushby KMD, Thambyayah M, Gardner-Medwin D (1991) Prevalence and incidence of Becker muscular dystrophy. Lancet 337:1022–1024
Bushby KMD, Gardner-Medwin D, Nicholson LVB, Johnson MA, Haggerty ID, Cleghorn NJ, Harris JB, Bhattacharya SS (1992) The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities. J Neurol 240:105–112
Cornelio F, Dworzak F, Morendi L, et al (1982) Functional evaluation of Duchenne muscular dystrophy: proposal for a protocol. Ital J Neurol Sci 3:323–330
Crapo RO, Morris AIL, Gardner RM (1981) Reference spirometric values using techniques and equipment that meets ATS recommendations. Am Rev Respir Dis 123:659–664
Dreifuss RE, Hogan GR (1961) Survival in X-chromosomal muscular dystrophy. Neurology 11:734–737
Education statistics for the United Kingdom 1969 and 1989. Government Statistical Service, HMSO
Emery AEH, Skinner R (1976) Clinical studies in benign (Becker type) X-linked muscular dystrophy. Clin Genet 10:189–201
Fischbeck KH (1991) Mild myopathic syndromes. In: Angelini C, Danieli GA, Fontanari D (eds) Muscular dystrophy research: from molecular diagnosis toward therapy. (Excerpta medica international congress ser 934) Excerpta Medica, Amsterdam, pp 61–69
Gardner-Medwin D (1980) Clinical features and classification of the muscular dystrophies. Br Med Bull 36:109–115
Gardner-Medwin D (1982) The natural history of Duchenne muscular dystrophy. In: Wise G, Blair MRL, Procopis P (eds) Topics in child neurology, vol 2. MTP Press, Boston, pp 17–29
Gardner-Medwin D, Sharples P (1989) Some studies of the Duchenne and autosomal recessive types of muscular dystrophy. Brain Dev 2:91–97
Gospe SM, Lozaro RP, Lava NS, et al (1989) Familial Xlinked myalgia and cramps: a non-progressive myopathy associated with a deletion in the dystrophin gene. Neurology 39:1277–1280
Guarantors of Brain (eds) (1986) Aids to the examination of the peripheral nervous system. Baillière Tindall, Paris
Hoffmann EP, Brown RH Jr, Kunkel LM (1987) Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51:919–928
Karagan NJ, Sorenson JP (1981) Intellectual functioning in non-Duchenne muscular dystrophy. Neurology 31:448–452
Koenig M, Hoffman EP, Bertelson CJ, et al (1987) Complete cloning of the Duchenne Muscular Dystrophy (DMD) cDNA and preliminary genomic organisation of the DMD gene in normal and affected individuals. Cell 50:509–517
Markland ON, North RR, D'Agostino AN, Daly DD (1969) Benign sex-linked muscular dystrophy. Neurology 19:617–632
Passos-Bueno MB, Zatz M (1991) Reproductive fitness and frequency of new mutations in Becker muscular dystrophy: implications for genetic risk estimates. J Med Genet 28:286–288
Ringel SP, Caroll JE, Schold SC (1977) The spectrum of mild X-linked muscular dystrophy. Arch Neurol 34:408–416
Sakata C, Yomada H, Sunohara N (1990) Cardiomyopathy in Becker muscular dystrophy. Rinsho-Shineigateu 30:952–955
Shaw RF, Dreifuss FE (1969) Mild and severe forms of Xlinked muscular dystrophy. Arch Neurol 20:451–460
Wechsler D (1974) Manual for the Wechsler Intelligence Scale for children — revised. The Psychological Corporation, New York
Worton RG (1988) Genetics of Duchenne muscular dystrophy. Annu Rev Genet 22:601–629
Zatz M, Rapaport D, Vainzof M, et al (1991) Serum creatine kinase (CK) and pyruvate kinase (PK) activities in Duchenne and Becker muscular dystrophy. J Neurol Sci 102:190–196
Zellweger H, Hanson JW (1967) Slowly progressive X-linked recessive muscular dystrophy (type IIIB). Arch Intern Med 120:525–535
Author information
Authors and Affiliations
Additional information
An erratum to this article is available at http://dx.doi.org/10.1007/BF00867363.
Rights and permissions
About this article
Cite this article
Bushby, K.M.D., Gardner-Medwin, D. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. J Neurol 240, 98–104 (1993). https://doi.org/10.1007/BF00858725
Received:
Revised:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00858725