Abstract
Two sisters with muscular dystrophy of Becker-like clinical features presented. Muscle weakness was most prominent in the pelvic girdle, but in the elder sister the distal muscles of the lower extremities were also affected. The progression was different in the siblings: The older sister showed a more pronounced deterioration than the younger. The family history was negative in four generations including their brother and youngest sister. Serum creatine kinase activities increased considerably. Electromyogram and muscle biopsy specimens revealed myopathic changes characteristic of muscular dystrophy. Chromosomal analysis confirmed normal 46,XX karyotype. DNA analysis with all cDNA probes spanning the entire dystrophin gene failed to reveal any intragenic deletion or duplication on southern blot. Immunohistochemistry for dystrophin using monoclonal antibodies against the rod and C-terminal domains showed normal continuous staining at the sarcolemma of the muscle fibers in the biopsy specimens of both patients. The results practically exclude the possibility of Xp21 myopathy, and it seems reasonable to classify these patients as having autosomal recessive childhood muscular dystrophy.
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Arahata K, Hoffman EP, Kunkel LM, Ishiura S, Tsukuhara T, Ishihara T, Sunohara N, Nonaka I, Ozawa E, Sugita H (1989a) Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analysis. Proc Natl Acad Sci USA 86:7154–7158
Arahata K, Ishihara T, Kamakura K, Tsukahara T, Ishiura S, Baba C, Matsumoto T, Nonaka I, Sugita H (1989b) Mosaic expression of dystrophin in symptomatic carriers of Duchenne's muscular dystrophy. N Engl J Med 320:138–142
Ayme S, Pelissier JF, Mattei JF, Giraud F (1979) Duchenne type muscular dystrophy and consanguinity: difficulties in pedigree analysis. J Med Genet 16:393–405
Bonilla E, Schmidt B, Samitt CE, Miranda AF, Hays AP, DeOliveira AB, Chang HW, Servidei S, Ricci E, Younger DS, DiMauro S (1988) Normal and dystrophin deficient fibers in carriers of the gene for Duchenne muscular dystrophy. Am J Pathol 133:440–445
Boyd Y, Buckle V, Holt S, Munro E, Hunter D, Craig I (1986) Muscular dystrophy in girls with X;autosomal translocations. J Med Genet 23:484–490
Gomez MR, Engel AG, DeWald G, Peterson HA (1977) Failure of inactivation of Duchenne dystrophy X-chromosome in one of female identical twins. Neurology 27:537–541
Hamida MB, Fardeau M, Attia N (1983) Severe childhood muscular dystrophy affecting both sexes and frequent in Tunesia. Muscle Nerve 6:469–480
Hoffmann EP, Brown RH, Kunkel LM (1987) Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 51:919–928
Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM (1987) Complete cloning of the Duchenne muscular dystrophy cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals Cell 50:509–517
Kunkel LM, Monaco AP, Middlesworth W, Ochs HD Latt SA (1985) Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Proc Natl Acad Sci USA 82:4778–4782
Lindenbaum RH, Clarke G, Patel C, Moncrieff M, Hughes JT (1979) Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm. J Med Genet 16:389–392
Matsumura K, Tomé FMS, Collin H, Azibi K, Chaouch M, Kaplan JC, Fardeau M, Campbell KP (1992) Deficiency of the 50 K dystrophin-associated glycoprotein in severe childhood autosomal recessive dystrophy. Nature 359:320–322
McGuire SA, Fischbeck KH (1991) Autosomal recessive Duchenne-like muscular dystrophy: molecular and histochemical results. Muscle Nerve 14:1209–1212
Minetti C, Chang HW, Medori R, Prelle A, Moggio M, Johnsen SD, Bonilla E (1991) Dystrophin deficiency in young girls with sporadic myopathy and normal karyotype. Neurology 41:1288–1292
Monaco AP, Bertelson CJ, Middleworth W, Colletti CA, Aldridge C, Fischbeck KH et al. (1985) Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature 316:842–845
Moser H, Emery AEH (1974) The manifesting carrier in Duchenne muscular dystrophy. Clin Genet 5:271–284
Norman AM, Hughes HE, Gardner-Medvin D, Nicholson LVB (1989) Dystrophin analysis in the diagnosis of muscular dystrophy. Arch Dis Child 64:1501–1503
Richards CS, Watkins SC, Hoffman EP, Schneider NR, Milsark IW, Katz KS, Cook JD, Kunkel LM, Cortada JM (1990) Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. Am J Hum Genet 46:672–681
Salih MAM, Omer MIA, Bayoumi RA, Karrar O, Johnson M (1983) Severe autosomal recessive muscular dystrophy in an extended Sudanese kindred. Dev Med Child Neurol 25:43–52
Walker AP, Laing NG, Bartlett RJ, Mechler F, Akkari PA, Chandler DC, Layton MG, Mears ME, Secore SL, Hung WY, Stajich JM, Petricak-Vance MA, Kakulas BA, Roses AD (1990) A TAQ I map of exon-containing fragments of the dystrophin gene. J Neurol Sci 98:163–164
Walton JN, Gardner-Medwin D (1981) Progressive muscular dystrophy and the myotonic disorders. In: Walton JN (ed) Disorders of voluntary muscle. Churchill Livingstone, Edinburgh, pp 481–524
Yoshioka M (1981) Clinically manifesting carriers in Duchenne muscular dystrophy. Clin Genet 20:7–12
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Diószeghy, P., Molnár, M. & Mechler, F. Becker-like muscular dystrophy in sisters. Eur Arch Psychiatry Clin Nuerosci 245, 326–330 (1995). https://doi.org/10.1007/BF02191875
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DOI: https://doi.org/10.1007/BF02191875