Carrier Detection in Duchenne Muscular Dystrophy

Bundey, Sarah; Edwards, J. H.; Insley, J

doi:10.1016/s0140-6736(79)91302-3

Cited by 7 publications

(1 citation statement)

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“…Some authors have suggested that the higher detection rate among young possi ble carriers than in adults might represent just an effect of ageing taking place in nor mal female controls and not related to the DMD gene [Gardner-Medwin, 1970;Bundey et al, 1979b;Thomson et al, 1979], since CK levels are higher also in normal pre-menarchal teenagers than in postmenarchal and mature women [Bundey et al, 1979a;Smith et al, 1979;Livingstone et al, 1982;Passos et al, 1985;Rocha, 1986].…”

Section: Introductionmentioning

confidence: 99%

Estimates of Conditional Heterozygosity Risks for Young Females in Duchenne Muscular Dystrophy

Passos‐Bueno

Otto²,

Zatz³

1989

Hum Hered

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Using the data from daughters of known carriers and from age-paired controls, we present a method for estimating the mean and variance of creatine kinase (CK) and pyruvate kinase (PK) in pre-menarchal and early adolescent Duchenne muscular dystrophy (DMD) carriers. CK and PK means and variances were estimated for different age ranges; it is shown that among DMD carriers the levels of both enzymes decrease linearly with age. A discriminant analysis was further performed for the estimation of biochemical risks favouring the diagnosis of heterozygosity for possible young carriers. The use of this method may also be applicable for other X-linked conditions in which the detection of heterozygotes is probabilistic.

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Section: Introductionmentioning

confidence: 99%

Estimates of Conditional Heterozygosity Risks for Young Females in Duchenne Muscular Dystrophy

Passos‐Bueno

Otto²,

Zatz³

1989

Hum Hered

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Genetic counseling in duchenne muscular dystrophy

Bradley¹,

Kelemen²

1979

Muscle and Nerve

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Duchenne muscular dystrophy (DMD) is an X-linked recessive trait. Only niales are affected, but inheritance is through the female line. A small percentage of female carriers have some clinical manifestations of the disease.""" DMD is a severe, crippling, lethal disease, which imposes a major social and psychological burden 011 the affected individual and his family. Genetic counseling plays a major role in DMD; its aim should be to avoid the birth of affected males, while allowing the birth of normal individuals. Two papers in the current issue of Muscle 8c Nerve, one from Toront.04" (pp 329-339) and the other from Cincinnati46 (pp 390-393) add important information on the use of creatine kinase (CK) and pyruvate kinase (PK) in genetic counseling in DMD.

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Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention

1984

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Duchenne muscular dystrophy (DMD) is the most common sex linked lethal disease in man (one case in about 4000 male live births). The patients are wheelchair bound around the age of 8-10 years and usually die before the age of 20 years. The mutation rate, estimated by different methods and from different population studies, is in the order of 7 X 10(-5), which is higher than for any other X-linked genetic disease. Moreover, unlike other X linked diseases such as hemophilia A or Lesh-Nyhan's disease, there seems to be no sex difference for the mutation rates in DMD. Several observations of DMD in girls bearing X-autosomal translocations and linkage studies on two X chromosomal DNA restriction fragment length polymorphisms indicate that the DMD locus is situated on the short arm of the X chromosome, between Xp11 and Xp22. It may be of considerable length, and perhaps consisting of actively coding and non-active intervening DNA sequences. Thus unequal crossing over during meiosis in females could theoretically account for a considerable proportion of new mutations. However, there is no structurally or functionally abnormal protein known that might represent the primary gene product, nor has any pathogenetic mechanism leading to the observed biochemical and histological alterations been elucidated. Among the numerous pathogenetic concepts the hypothesis of a structural or/and functional defect of the muscular plasma membrane is still the most attractive. It would explain both the excess of muscular constituents found in serum of patients and carriers, such as creatine kinase (CK), as well as the excessive calcium uptake by dystrophic muscle fibres, which, prior to necrosis, could lead to hypercontraction, rupture of myofilaments in adjacent sarcomeres and by excessive Ca uptake to mitochondrial damage causing crucial energy loss. The results of studies on structural and functional membrane abnormalities in cells other than muscle tissue, e.g., erythrocytes, lymphocytes and cultured fibroblasts, indicate that the DMD mutation is probably demonstrable in these tissues. However, most of the findings are still difficult to reproduce or even controversial. DMD is an incurable disease; therefore most effort, in research as well as in practical medicine, is concentrated upon its prevention.(ABSTRACT TRUNCATED AT 400 WORDS)

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Carrier Detection in Duchenne Muscular Dystrophy

Cited by 7 publications

References 2 publications

Estimates of Conditional Heterozygosity Risks for Young Females in Duchenne Muscular Dystrophy

Estimates of Conditional Heterozygosity Risks for Young Females in Duchenne Muscular Dystrophy

Genetic counseling in duchenne muscular dystrophy

Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention

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