Full text in pdf format

Becker-type muscular dystrophy in a mother of three boys affected by duchenne muscular dystrophy: a follow-up study

Mayana Zatz^I; Debora Rapaport^I; Maria Rita Passos^II; José Antonio Levy^II

^IDepartamento de Biologia, Instituto de Biociências, Universidade de São Paulo, Caixa Postal 11461, 05499 São Paulo, SP, Brasil. Send correspondence to M.Z.
^IILaboratório de Genética Médica, Hospital Prof. Edgard Santos, Universidade Federal da Bahia, 40000 Salvador, BA, Brasil
^IIIAmbulatório de Clínica Neurológica, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil

ABSTRACT

A 14 year follow-up study of a family with three Duchenne muscular dystrophy affected boys and two manifesting carriers (a definite and a possible heterozygote) was performed. The affected mother showed a clinical picture similar to that of Becker type or limb-girdle type muscular dystrophy. At age 50 she was unable to climb stairs and she stopped walking at age 52. One of her daughters, aged 32, has had hypertrophy of the calves and high levels of creatinekinase (CK) and pyruvate-kinase (PK) since age 16. Several hypotheses are discussed to explain the occurrence of clinical manifestation in two or more carriers belonging to the same genealogy.

Keywords: becker-type; dystrophy; duchenne; muscular.

REFERENCES

Blyth, H. and Hughes, B.P. (1971). Pregnancy and serum CPK levels in potential carriers of severe X-linked muscular dystrophy. Lancet 1: 1013.

Bortolini, E.R. and Zatz, M. (1986). Investigation on genetic heterogeneity in Duchenne muscular dystrophy. Am. J. Med. Genet. 24: 111-117.

Boyd, Y. and Buckle, V.J. (1986). Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy. Clin. Genet. 29:108-115.

Burn, J., Povey, S., Boyd, Y., Munro, E.A., West, L., Harper, K. and Thomas, D. (1986). Duchenne muscular dystrophy in one of monozygotic twin girls. J. Med. Genet. 23:494-500.

Davies, K., Forrest, S., Kenwrick, S., Paulsen, K., Smith, T., Lavenir, I. and Ball, S. (1986). Characterization of deletions in Duchenne muscular dystrophy patients with DNA probes. Muscle and Nerve 9:51.

Emery, A.E.H. (1963). Clinical manifestations in two carriers of Duchenne muscular dystrophy. Lancet 1:1126-1128.

Emery, A.E.H. (1980). Duchenne muscular dystrophy: genetic aspects, carrier detection and antenatal diagnosis. Br. Med. Bull. 36: 117-122.

Emery, A.E.H. (1983). The muscular dystrophies. In: Principles and Practice of Medical Genetics (Emery, A.E.H. and Rimoin, Eds.). Churchill Livingstone, New York, pp. 392-413.

Emery, A.E.H. and King, B. (1971). Pregnancy and serum creatine-kinase levels in potential carriers of Duchenne X-linked muscular dystrophy. Lancet 1: 1013.

Emery, A.E.H. and Skinner, R. (1976). Clinical studies in benign (Becker type) X-linked muscular dystrophy. Clin. Genet. 10:189-201.

Emery, A.E.H., Skinner, R. and Holloway, S. (1979). A study of possible heterogeneity in Duchenne muscular dystrophy. Clin. Genet. 15:444-449.

Gomez, M.R., Engel, A.G., Dewald, G. and Petersen, H.A. (1977). Failure of inactivation of Duchenne dystrophy X-chromosome in one of female identical twins. Neurology, 27: 537541.

Hazama, R., Tsujihata, M., Mori, M. and Mori, K. (1979). Muscular dystrophy in six young girls. Neurology 29: 1468-1491.

Lyon, M.F. (1962). Sex chromatin and gene action in the mammalian X-chromosome. Am. J. Hum. Genet. 14: 135.

Meltzer, H.Y., Doms, E., Grunhaus, L., Davis, M. and Belmaker, R. (1978). Genetic control of human plasma creatine phosphokinase activity. Clin. Genet. 13:321-326.

Meola, G., Scarpini, E., Silani, V. and Scarlato, G. (1981). Manifesting carrier of X-linked Duchenne muscular dystrophy. J. Neurol. Sci. 49: 455-463.

Monaco, A.P. and Kunkel, L.M. (1987). A giant locus for the Duchenne and Becker muscular dystrophy gene. Trends in Genetics_. 3: 3.

Moser, H. and Emery, A.E.H. (1974). The manifesting carrier in Duchenne muscular dystrophy. Clin. Genet. 5: 271-284.

Moser, H. and Vogt, J. (1974). Follow-up study of serum creatine kinase in carriers of Duchenne muscular dystrophy. Lancet 2: 661-662.

Murphy, E.G. and Thompson, M.W. (1967). Manifestations of Duchenne muscular dystrophy in carriers. In: Progress in Neuro-Genetics; Proc. 2nd Int. Congr. Neuro-Genetics a. NeuroOphthalmology, Montreal, Sept. 17-22, 1967 vol. I. Excerpta Medica, p. 162.

Nicholson, G.A., Gardner-Medwin, D., Pennington, R.J.T. and Walton, J.N. (1979). Carrier detection in Duchenne muscular dystrophy: Assessment of the effect of age on detection-rate with serum creatine-kinase-activity. Lancet 1:692.

Olson, B.J. and Fenichel, G.M. (1982). Progressive muscle disease in a young woman with family history of Duchenne's muscular dystrophy. Arch. Neurol. 39: 378-380.

Pena, S.D.J., Karpati, G., Carpenter, S. and Fraser, F.C. The clinical consequences of X-chromo-somai inactivation: Duchenne muscular dystrophy in one of monozygotic twins. J. Neural. Sci. (in press).

Reddy, B.K., Anadavalli, T.E. and Reddi, O.S. (1984). X-linked Duchenne muscular dystrophy in an unusual family with manifesting carriers. Hum. Genet. 67:460-462.

Sibert, J.R., Harper, P.S., Thompson, R.J. and Newcombe, R.G. (1979). Carrier detection in Duchesne muscular dystrophy — Evidence from a study of obligatory carriers and mothers of isolated cases. Arch. Dis. Child. 54: 534-537.

Williams, W.R., Thompson, M.W. and Morton, N.E. (1983). Complex segregation analysis and computer-assisted genetic risk assessment for Duchenne muscular dystrophy. Ant J. Med. Genet. 14: 315-333.

Yoshioka, M. (1981). Clinically manifesting carriers in Duchenne muscular dystrophy. Clin. Genet. 20:6-12.

Zatz, M. and Bortolini, E.R. Genetic heterogeneity in Duchenne muscular dystrophy. Am. J. Med. Genet. (in press).

Zatz, M., Levisky, R.B., Levy, J.A., Valente, B.O., Gianotti, M. and Frota-Pessoa, O. (1973). Clinical symptoms in a female carrier of Duchenne muscular dystrophy. J. Génét. Hunt 21: 297-305.

Zatz, M., Frota-Pessoa, O., Levy, J.A. and Peres, C.A. (1976). Creatine-phosphokinase activity in relatives of patients with X-linked muscular dystrophies. A Brazilian study. J. Génét. Hunt 24: 153-168.

Zatz, M., Passos, M.R. and Bortolini, E.R. (1983). Serum pyruvate-kinase (PK) activity during pregnancy in potential carriers for Duchenne muscular dystrophy. Ant J. Med Genet. 15: 149-151.