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)

A man had weakness of humeroperoneal distribution associated with limited range of motion of the cervical spine and elbows. At age 25 he developed permanent atrial paralysis, and a cardiac pacemaker was inserted. Although this case was sporadic, most others have been transmitted as an X-linked recessive trait. Mixed patterns in electromyography and muscle histology have caused nosological confusion, but the unique clinical signs seem to define a distinct form of muscular dystrophy, warranting the designation "emery-Dreifuss" type.
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PMID:Emery-Dreifuss muscular dystrophy. 42 73

A Ca2+-activated neutral protease activity was examined in muscles of normal and dystrophic hamsters and mice. Light grey and golden brown strains of normal and B10 14.6 strain of dystrophic hamsters were used. Normal and dystrophic mice were of the Bar Harbor 129 ReJ strain. Enzyme activity was measured in the post myofibrillar fraction (homogenate) and in the 75,000 x g pellet (particulate fraction) and supernatant using purified myofibrils. In normal and dystrophic hamsters or mice, the Ca2+-activated neutral protease was most active in the supernatant followed by the homogenate and particulate fractions. As compared to fractions from normal muscle, enzyme activity was significantly elevated in all 3 fractions from dystrophic muscles of hamsters and mice. Both homogenate and supernatant fractions from muscles of normal hamsters had significantly higher enzyme activity than those of normal mice. Enzyme activity was similar in the particulate fraction. Similarly enzyme activity in the 3 fractions from dystrophic hamster and mouse muscles showed no significant difference. It is suggested that the Ca2+-activated neutral protease may be involved in muscle fibre necrosis in muscular dystrophy.
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PMID:Increased calcium-activated neutral protease activity in muscles of dystrophic hamsters and mice. 43 97

This is a report of three cases of myopathy limited to the quadriceps and gastrocnemius muscles, occurring in the male offspring of the same mother but two different fathers. They have many similarities to a previously described clinical syndrome called quadriceps-confined myopathy. The pedigree demonstrates an apparent sex-linked recessive condition which has not been demonstrated previously. Information gained from a review of the literature is related to these three cases. It is suggested that these cases are part of a poorly defined clinical entity and that a new classification of quadriceps-gastrocnemius muscular dystrophy be introduced.
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PMID:Myopathy limited to the quadriceps and gastrocnemius muscles occurring in three brothers. 43 83

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

Two membrane-bound enzymes, concerned in repair of erythrocyte membranes, have been investigated in patients with muscular dystrophy. The activation of long-chain fatty acids is normal in erythrocytes from Duchenne patients, but increases two-fold in cells from myotonic dystrophy patients (congenital form). This alteration is not present in leucocytes. In all leucocytes tested palmitate was the preferred substrate while palmitoleate and linoleate were activated at a lower rate. In the erythrocytes the 3 fatty acids were activated at the same rate. Carnitine palmitoyltransferase was not significantly altered in erythrocytes of both groups of patients.
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PMID:Fatty acid activation and transfer in blood cells of patients with muscular dystrophy. 43 51

Myocardial function was evaluated prospectively by noninvasive methods in 20 boys with clinical, biochemical, muscle biopsy, and electromyographic evidence of Duchenne's progressive muscular dystrophy. Auscultatory evidence of a nonejection systolic click suggested mitral valve prolapse (MVP) syndrome in seven patients. Phonocardiography disclosed that the click was mid-systolic in four patients and early in three. Echocardiographic features consistent with this diagnosis were identified in all seven patients and in an additional four. One of these had an apical pansystolic murmur, suggestive of mitral regurgitation, whereas in the other three, prolapse of the mitral valve was "silent". Echocardiographic findings included an abrupt midsystolic, posterior motion (greater than 3 mm beyond the CD line) in five patients, multiple sequence echoes in six, and posterior coaptation of the mitral valve near the left atrial wall in six. The features most characteristic of MVP syndrome was a smooth, pansystolic, anteriorly concave (hammock-like) posterior motion deviating more than 3 mm beyond the CD line. Among the remaining nine patients who did not have echocardiographic evidence of prolapsing mitral valve, none had an early, middle or late nonejection systolic click or a heart murmur, although four patients in this group had moderate to severe scoliosis. These observations document of occurrence of MVP syndrome in children with Duchenne's muscular dystrophy and indicate that its prevalence is high. We speculate that prolapse of the mitral valve in these patients is an expression of the underlying cardiomyopathy characteristic of Duchenne's muscular dystrophy rather than an isolated, dystrophic involvement of the mitral valve leaflets.
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PMID:Mitral valve prolapse syndrome in children with Duchenne's progressive muscular dystrophy. 44 Jul 88

60 patients with different forms of neuromuscular disorders were examined. Morphological studies of skeletal muscles and of diurnal excretion with urine of acetic GAG were carried out. It was established that the changes in the stromal connective tissue in the progressive muscular dystrophia appear in the early stages of the disease and affect both the essential substance and the fibrillar structures. The excretion with the urine of acetic GAG was increased. In denervative amyotrophy the changes became apparent against the background of marked clinical symptoms. The data obtained may be important for a differential diagnosis of progressive muscular dystrophy and denervative amyotrophy, and for the development of differential drug therapy.
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PMID:[Status of connective tissue in progressive muscular dystrophies]. 44 94

A fraction of erythrocyte Band 3 (Mr, 93,000) glycoprotein that demonstrates decreased autophosphorylation in membranes from myotonic muscular dystrophy patients is demonstrated. Sequential affinity chromatography of Triton X-100 solubilized erythrocyte membrane proteins separated three specifically retained glycoprotein fractions on a Ricin Communis I-Sepharose 4B column. One fraction contains a portion of the major sialoglycoprotein (apparent Mr, 78,000) and is specifically eluted from the column by 10 mM NaCl and 100 mM D-galactose (10/100). The two other glycoprotein fractions are eluted by 100 mM NaCl, 10 mM D-galactose (100/10) and 100 mM NaCl, 100 mM D-galactose (100/100). The composition of both fractions contains greater than 95% Band 3 (apparent Mr, 93,000 glycoprotein. The quantities of glycoprotein in each fraction obtained from erythrocytes of myotonic dystrophy patients did not differ from the quantities obtained from control erythrocytes. Following endogenous protein kinase incubations of ghosts with [gamma-32P]ATP, the specific [32P] phosphorylation of the 10/100 and 100/10 fractions are identical. The 100/100 fraction, which makes up approximately 3% of the total erythrocyte membrane protein, demonstrates a different pattern for myotonic dystrophy patients; specific phosphorylation was reduced by 50% relative to activity in control experiments. These findings are consistent with previous experiments that demonstrated decreased autophosphorylation of the glycoprotein portion of Band 3 (Roses & Appel, 1975, J. Membrane Biol 20:51) and are consistent with the autosomal dominant mode of inheritance in this disease.
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PMID:Isolation of an abnormally phosphorylated erythrocyte membrane band 3 glycoprotein from patients with myotonic muscular dystrophy. 44 24

Indirect systolic time intervals corrected for heart rate were measured at rest, during, and immediately after the isometric handgrip exercise in 70 patients with progressive muscular dystrophy, and these were compared with the values of normal subjects. Those with dystrophy included 47 patients with Duchenne type, 19 with limb girdle type and 4 with facioscapulohumeral type, and each type was subdivided into 2 groups by the severity of the skeletal muscle involvement: 1) mild group, included patients who were still able to walk, 2) severe group, included those who were restricted to wheel chair or confined to bed. Over a half of the patients of the severe Duchenne type group had a longer pre-ejection period (PEP), shorter left ventricular ejection time (LVET), and larger PEP/LVET ratio at rest than the normal group. Increased PEP/LVET ratio during and after isometric handgrip exercise was observed in the severe group of Duchenne type. The patients with limb girdle type, and facioscapulohumeral type showed no significant difference in values of the systolic time intervals at rest and during handgrip exercise compared with the normal subjects. The measurements of resting and exercise systolic time intervals may be useful for clinical recognition of latent left ventricular functional impairement in subjects with progressive muscular dystrophy.
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PMID:Systolic time intervals in progressive muscular dystrophy. 44 40

A patient with advanced muscular dystrophy of the Duchenne type developed severe hypokalemia thought to be secondary to moderate gastro-intestinal losses in association with reduced intracellular potassium stores. With correction of the hypokalemia, the cardiac rhythm became more normal. In patients with advanced dystrophy, hypokalemia may be functionally significant.
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PMID:Acute hypokalemia as a possible cause of death in a patient with advanced muscular dystrophy. 44 73


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