Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Four of five afflicted boys in the family K. suffer from the Becker type of dystrophy and one from a more severe type. All affected boys and their mothers, who are three sisters, have undergone clinical, electromyographic, electrocardiographic and biochemical examination; muscle biopsy was performed in some boys. This family is a rare example of the intrafamilial variability of X-linked progressive muscular dystrophy. The possible explanation of the variability observed is discussed.
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PMID:Intrafamilial variability of X-linked progressive muscular dystrophy. Mild and acute form of X-linked muscular dystrophy in the same family. 7 17

A high incidence of mitral valve prolapse (MVP) has been reported in patients with X-linked Duchenne muscular dystrophy. In our study MVP was present in six of 22 Duchenne dystrophy cases (27%) followed in the Maryland General Hospital Muscular Dystrophy Clinic. In addition, seven carriers of Duchenne and X-linked benign (Becker) dystrophy had evidence of MVP. Autosomal dominant transmission of MVP was present in four families. The unusually high prevalence of MVP in families with X-linked muscular dystrophy may have potential value in the recognition of the carrier trait.
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PMID:Familial occurrence of mitral valve prolapse in X-linked muscular dystrophy. 43 21

Serum creatine kinase levels were determined in 75 girls (age range, one month to 15 years) and 200 normal adult women (age range, 18 to 50 years). The values ranged from 12.5 to 80 IU/1 in girls and 19 to 155 IU/1 in adult females. The SCK level appeared to increase with age from 1 to 15 years, after which the level remained fairly constant. These data should be helpful in the detection of carriers of X-linked forms of muscular dystrophy.
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PMID:Serum creatine kinase levels in normal females. 46 86

This is a review of clinical, cardiologic, electrophysiologic, pathologic, and serum creatine kinase changes in eight families with slowly progressive X-linked Becker-type muscular dystrophy. All but one of the patients were able to walk until the age of 16 years, and most lived beyond 20. In every family, electromyography and muscle biopsy showed features which, on the basis of classical criteria, were interpreted as those of both myopathy and denervation, although among patients and among families, one or the other of these processes predominated. The most frequent biopsy picture was of fiber atrophy and hypertrophy, with many split and angulated fibers, and clumps of pyknotic nuclei. Necrosis, phagocytosis, regeneration, endomysial fibrosis, and some fatty infiltration were commonly seen. Review of a family originally described by Becker showed a similar biopsy picture; These pathologic changes are separable from those of Duchenne muscular dystrophy, but they often overlap with those seen in other chronic neuromuscular diseases.
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PMID:Becker-type muscular dystrophy. 57 27

The response of serum creatine phosphokinase (SCPK) to intravenous hydrocortisone was studied in different neuromuscular diseases, in Duchenne carriers and relatives of various muscular dystrophy (MD) cases. SCPK activity increased significantly in MD cases, 50% of known and 18.7% of possible Duchenne carriers. No such increase was found in other neuromuscular disease, in other relatives of MD cases and in normal controls. An inverse correlation was observed between the grade of disability and post-steroid percentage increase of SCPK activity in X-linked severe (DMD) cases. Such an inverse correlation was also found between the duration of the disease and post-steroid percentage increase of SCPK activity in DMD cases. A possible explanation is given.
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PMID:Steroid-CPK test. A new diagnostic aid for muscular dystrophy and its carriers? 71 Apr 53

The results are presented from the first year of our clinic in Edinburgh. These were included in the setting up of a computerized Register of Ascertainment and Prevention of Inherited Disease ('RAPID') in the Department of Human Genetics. A total of 45 relatives who had greater than 10% risk were ascertained from fifteen families with hereditary diseases; 24 relatives had 10% risk of retinitis pigmentosa. The pupils at the Royal Blind School, Edinburgh, were surveyed and it was found that 40% of the 100 pupils had definitely inherited severe eye disease. Only 31% , had definitely non-genetic disease, for which reassuring counseling can be given. In 29% we could not be sure. From those with hereditary disease we ascertained 51 relatives at greater than 10% risk. Any patient with a fairly symmetrical 'quiet' eye disease, especially if congenital, should be suspected of having an hereditary disease--presumably due to a recessive gene, even if the parents are not consanguineous, but possibly due to a mutation which could prove dominant; a search of the literature in such cases is useful. Although patients with a 'recessive' disease can be reassured that the (extra) risk to their children is small, it is worth warning them that in their families a consanguineous marriage is more liable than usual to produce affected children. A case of oculo-pharyngeal muscular dystrophy was seen and two cases of Leber's congenital amaurosis: the commonest diagnosis was retinitis pigmentosa, and there were several cases of Marfan's syndrome. The Royal Blind School takes both boys and girls and one couple have recently married, the male with X-linked retinitis pigmentosa and the female with dominantly inherited retinoblastoma.
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PMID:An ophthalmic genetics clinic. 106 40

Golden retriever muscular dystrophy (GRMD) is a spontaneous, X-linked, progressively fatal disease of dogs and is also a homologue of Duchenne muscular dystrophy (DMD). Two-thirds of DMD patients carry detectable deletions in their dystrophin gene. The defect underlying the remaining one-third of DMD patients is undetermined. Analysis of the canine dystrophin gene in normal and GRMD dogs has failed to demonstrate any detectable loss of exons. Here, we have demonstrated a RNA processing error in GRMD that results from a single base change in the 3' consensus splice site of intron 6. The seventh exon is then skipped, which predicts a termination of the dystrophin reading frame within its N-terminal domain in exon 8. This is the first example of dystrophin deficiency caused by a splice-site mutation.
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PMID:An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy. 157 76

We report 11 children with a homogeneous clinical syndrome affecting both sexes, characterized by weakness at birth, slowly improving course, weakness of all muscle groups, arreflexia, elevated blood creatine kinase, normal nerve conduction velocity, dystrophic changes on muscle biopsy, and diffuse periventricular cortical white-matter abnormalities with sparing of corpus callosum, internal capsule, and brain stem. We compare them to 48 other previously reported similar cases and designate them as altered myelin radiographic pattern congenital muscular dystrophy (CMD), which is the same as occidental CMD. We compare them to the other presently accepted phenotypes: progressive Fukuyama CMD, Walker-Warburg or cerebral-ocular CMD, and Santavuori or muscle-eye-brain CMD. We suggest that the different phenotypes are alleles of the same gene, which regulates or expresses a structural protein required for muscle integrity, myelination, and formation of the cortex. Such phenotypic diversity has been established for mutations of Xp21 in X-linked muscular dystrophies.
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PMID:Congenital muscular dystrophy with abnormal radiographic myelin pattern. 158 16

Duchenne's muscular dystrophy (DMD) is an X-linked progressive myopathy caused by a defect in the DMD gene locus. The gene corresponding to the DMD locus produces a 14-kilobase (kb) messenger RNA that codes for a large cytoskeletal membrane protein, dystrophin. DMD and Becker's muscular dystrophy are the consequences of dystrophin mutations. The exact biological function of dystrophin remains unknown but it has been demonstrated that it is localized to the cytoplasmic face of the cell membrane and has direct interaction with several other membrane proteins. We report here the synthesis of a 14-kb full-length complementary DNA for the mouse muscle dystrophin mRNA and the expression of this cDNA in COS cells. The recombinant dystrophin is indistinguishable from mouse muscle dystrophin by western blot analysis with anti-dystrophin antibodies and was shown by an immunofluorescent technique to be localized in the cell membrane. Our successful construction of a functional full-length cDNA opens opportunities for the study of structure and function of dystrophin and provides an opportunity to initiate gene therapy studies.
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PMID:Expression of recombinant dystrophin and its localization to the cell membrane. 182 97

Thirteen dogs affected with X-linked Duchenne's muscular dystrophy and 11 female carrier dogs were studied by electrocardiography (ECG) and echocardiography. Twelve of the affected dogs were studied as immature animals and followed at 1 to 6 month intervals until they were 7 to 46 months of age. Compared with control dogs, affected dogs had significantly increased (p less than 0.02) Q/R ratios in ECG leads II, III, aVF, CV6LL (V2) and CV6LU (V4). Carrier dogs had significantly increased (p less than 0.02) Q/R ratios in leads V2 and V4. The Q/R ratio increased in three of six dogs followed up from age 6 months to greater than 2 years. The PR intervals were significantly shorter (p less than 0.02) in affected dogs. Ventricular arrhythmias were identified in four of six mature affected dogs. Two-dimensional echocardiography revealed distinctive hyperechoic lesions in 12 of the 13 affected dogs and in 6 of the 11 carrier dogs. Hyperechoic lesions corresponded to calcified myocardium and surrounding dense connective tissue. This study establishes the dog affected with Duchenne's muscular dystrophy as an animal model of Duchenne's cardiomyopathy and demonstrates that the heart in carrier dogs is affected by the dystrophic process.
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PMID:Duchenne's cardiomyopathy in a canine model: electrocardiographic and echocardiographic studies. 182 14


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