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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In this report we describe the use of dystrophin analysis both in the diagnosis of Duchenne muscular dystrophy (DMD) in an aborted fetus and in genetic counseling. Our consultand's initial carrier risk, as based on family history and creatine kinase determinations, was calculated as 0.6%. DNA analysis of her family (and fetus) modified this risk to 8.5%. Skeletal muscle of the 23-wk male abortus was found to be histologically indistinguishable from that of age-matched controls. However, immunoblot testing for dystrophin indicated that the fetus had indeed inherited dystrophin deficiency. The carrier risk of the consultand was thus elevated to 100%. Dystrophin assays should be employed whenever the diagnosis of fetal DMD is equivocal (e.g., cases in which a gene deletion cannot be identified). Assay results are crucial for genetic counseling for subsequent pregnancies and for studies of the early pathogenesis of muscular dystrophy.
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PMID:Dystrophin analysis in duchenne muscular dystrophy: use in fetal diagnosis and in genetic counseling. 267

This report concerns two families in which the index patients are sporadic cases of a benign form of muscular dystrophy. In both families the sisters of the patients have married a close relative. The respective risks for a child of these consanguineous marriages being affected with either X linked Becker muscular dystrophy or autosomal recessive limb girdle muscular dystrophy is calculated using pedigree information, results of serum creatine kinase determinations, and also, in one family, results of DNA typing using RFLPs from the short arm of the X chromosome.
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PMID:Benign muscular dystrophy: risk calculation in families with consanguinity. 273 90

The proband, a 17-year-old boy, was admitted to our department because of the difficulty in standing on heel. Physical examination revealed a marked weakness and atrophy of bilateral lower legs, especially anterior tibial muscles. Patellar and Achilles tendon reflexes were abolished. Marked hepatomegaly and moderate splenomegaly were noted on abdominal echogram and CT scanning. Serum creatine kinase, lactate dehydrogenase, GOT and GPT were markedly increased. There were no abnormal findings in thyroid function, serum lipid analysis and serum lactate level after ischemic forearm exercise test. EMG of anterior tibial and calf muscles showed a mixture of myogenic and neurogenic patterns and biopsy specimen of calf muscle was compatible with a dystrophic change. Liver biopsy specimen revealed no noticeable change except a slight ballooning of hepatocytes in light microscopy. However, electron microscopic examination showed a marked increase of intracellular vesicles and enlarged smooth ER in which low-density, cotton-like materials were contained. In family study, both his father and paternal uncle were also affected with advanced scapuloperoneal-type myopathy associated with a marked elevation of serum creatine kinase and hepatomegaly. The disorder differs from Miyoshi's distal muscular dystrophy, which shows an early involvement of flexor muscles in lower extremities and is inherited as an autosomal-recessive trait. Although the etiology of hepatomegaly in this case remains to be elucidated, the special findings on electron microscopic study imply the possibility of some unknown metabolic disorder involving both muscle and liver. This disease seems to be a new type of scapuloperoneal-type myopathy, probably having an autosomal-dominant inheritance.
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PMID:[Familial scapuloperoneal-type myopathy associated with a marked elevation of serum creatine kinase and hepatomegaly]. 275 61

Serum myoglobin (Mb) levels and creatine kinase (CK) activity were investigated in patients with different types of progressive muscular dystrophy and controls. The Mb levels were determined by radioimmunoassay and found to be significantly elevated in all patients under resting conditions. There was no correlation between Mb levels and CK activity. Physical exercise was followed by an increase in Mb levels and CK activity in patients and a minor variation in controls. Isoelectric focusing, electroblotting and application of a specific Mb antibody (rabbit anti-human Mb) make it possible to recognize marked differences between the Mb bands of patients and controls. All patients with progressive muscular dystrophy had an additional fourth Mb band (isoelectric point pH 6.3) in contrast to controls with three Mb bands.
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PMID:Hereditary progressive muscular dystrophies: serum myoglobin pattern in patients with different types of muscular dystrophies. 275 71

Manifesting carriers of Duchenne and Becker muscular dystrophy are uncommon but well described. Such patients are of particular importance with regard to the differential diagnosis from autosomal recessive limb-girdle muscular dystrophy. All mothers of affected males known to the Genetic Register of Muscular Dystrophy Families in Wales were contacted, and 167 out of a possible 190 were examined. It was estimated from pedigree and creatine kinase analysis that 119 out of the 167 were carriers of the Duchenne/Becker gene. Three manifesting carriers were identified, giving the proportion affected as 3/119 = 2.5%. We estimate the prevalence of manifesting carriers to be 1 in 100,000 of the female population, a figure comparable to the prevalence of autosomal recessive limb-girdle muscular dystrophy. During the period of the survey, several other women with similar clinical findings but without an appropriate family history were seen. We strongly suspect that some of these are also manifesting carriers of the Duchenne/Becker gene.
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PMID:A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales. 276 61

With the aim of offering carrier detection, genetic counselling, and prenatal diagnosis to as many families with Duchenne (DMD) and Becker (BMD) muscular dystrophy as possible, we used available DNA probes to determine the usefulness of the RFLP approach. We report in detail the risks calculated using Bayesian theory and combining pedigree and creatine kinase (CK) data with information derived from the RFLP studies. To date we have analysed members of 28 DMD families (10 familial, 18 sporadic) and six BMD families (four familial, two sporadic) with the closely linked pERT probes 87-1, 87-8, and 87-15 (DXS164). In addition, key members of all families were analysed with probes D2 (DXS43), C7 (DXS28), 754 (DXS84), and L1 X 28 (DXS7). Of the 97 females at risk of being carriers (not including 26 obligate carriers), the RFLP results were compatible with carriership in 22 and not in 51. In 24 females (including 17 mothers of sporadic cases), no information regarding carriership was derived from the RFLP studies. There was no disagreement between pedigree information, clearly raised CK values, and DNA studies. Of 52 obligate or possible carriers under the age of 45, prenatal diagnosis is possible in 49. Prenatal diagnostic RFLP studies have so far been done in three women. In one sporadic DMD family and one BMD family with three affected males the probands showed a deletion involving the three pERT87 subclones used. Experience derived from these families indicates that in our society genetic counselling in X linked muscular dystrophy is received with approval or even enthusiasm in spite of the 5% error estimate that we have quoted for pERT87 derived results.
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PMID:Carrier detection and prenatal diagnosis in X linked muscular dystrophy using restriction fragment length polymorphisms. 287 28

We have used elevated levels of plasma creatine phosphokinase activity to identify muscular dystrophy phenotypes in mice and to screen the progeny of chemical mutagen-treated male mice for X chromosome-linked muscular dystrophy mutations. We were not successful in identifying heterozygous carriers of these induced muscular dystrophy mutations in greater than 8000 progeny. However, we were highly successful in identifying three additional alleles of the characterized mdx locus. These alleles of mdx were recovered from various mutagen-treated males and they occur on an X chromosome that carries flanking markers that allow us to follow the mutations in genetic crosses and in the development of corresponding mutant stocks. These alleles have been designated as mdx2Cv, mdx3Cv, and mdx4Cv. Preliminary data show that mice with mdx2Cv and mdx3Cv mutations have muscular dystrophic phenotypes that do not grossly differ from the characterized mdx mutation. These additional mdx mutations expand the value of mouse models of X chromosome-linked muscular dystrophy and potentially define additional sites of mutation that impair dystrophin expression.
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PMID:Recovery of induced mutations for X chromosome-linked muscular dystrophy in mice. 291 77

Electrocardiographic (EKG) changes were investigated in 7-month-old dystrophic hamsters (DH) with cardiomyopathy and were correlated with biochemical and histologic aberrations. Abnormally tall R-I and R-aVL amplitudes, deep S-III and S-aVR waves, and elongated PR-I, QT-I, and QRS-I intervals (all at P less than 0.0001) were noted in DH compared with normal hamsters. These EKG changes are similar to those seen in Duchenne muscular dystrophy (DMD) and support cardiac hypertrophy (P less than 0.001) in DH. Excessive intracellular calcium accumulation in the heart (P less than 0.0001), diaphragm (P less than 0.001), and rectus femoris (P less than 0.05), and elevated plasma creatine kinase concentrations (P less than 0.001) were also noted in DH. Histopathology in the cardiac and skeletal muscles of DH included fatty infiltration, centronucleation, and sporadic necrosis with calcium deposition. Observed EKG abnormalities, biochemical alterations, and histological aberrations in the cardiac and skeletal muscles of DH are strikingly similar to those reported in DMD and thus substantiate the relevance of DH as a suitable model for the study of muscular dystrophy and cardiac hypertrophy.
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PMID:Electrocardiographic, biochemical, and morphologic abnormalities in dystrophic hamsters with cardiomyopathy. 295 Mar 21

A radioimmunoassay for human skeletal muscle myosin light chain 3 (MLC-3) was developed. The serum level of MLC-3 was evaluated in 143 patients suffering from neuromuscular diseases. Increased MLC-3 level was observed in muscular dystrophies. There were significant positive correlations between serum levels of MLC-3 and creatine kinase (CK) in Duchenne and limb-girdle type muscular dystrophy, but the regression lines were different. Patients with neurogenic amyotrophy, especially amyotrophic lateral sclerosis, also showed elevated MLC-3 levels with or without high CK, and the frequency of increase in MLC-3 was greater than that of CK. The results of the present study suggest that circulating MLC might be a useful marker for muscle breakdown not merely in myopathies but in neurogenic disorders.
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PMID:Increased serum myosin light chain 3 level in neuromuscular diseases. 311 71

Lysosomal cysteine proteinase (cathepsin B, H, and L) and MMP-7ase muscle metalloproteinase activities were measured in serum from Duchenne muscular dystrophic male patients and their mothers as gene-carriers. The activity of cathepsin H significantly increased in the Duchenne muscular dystrophic (DMD)-hemizygotes group and in the group of DMD heterozygotes. Significant positive correlation was found between the activity of serum creatine kinase (which previously has been proven to be a marker of muscular dystrophy) and of cathepsin L in the DMD-hemizygotes group. Furthermore, correlations were found between the activity of creatine kinase and MMP-7ase or between activity of creatine kinase and cathepsin H in the DMD heterozygotes. The changes in activity of proteolytic enzymes in serum of dystrophic patients can be explained by the elevated proteolytic enzyme activity in dystrophic muscle observed previously.
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PMID:Cysteine and metalloproteinase activities in serum of Duchenne muscular dystrophic genotypes. 320 67


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