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)

Freeze-fracture studies were conducted in erythrocyte plasma membrane from 8 patients with Duchenne muscular dystrophy (DMD), 8 age-matched controls, 3 adult controls, 10 patients with myotonic muscular dystrophy, and 26 other neuromuscular disease controls. There was marked depletion of intramembranous particles in Duchenne dystrophy, whereas intramembranous particle density counts in other neuromuscular diseases were within normal limits. Therefore, the internal molecular architecture of the erythrocyte membrane is abnormal in Duchenne dystrophy, supporting the concept that a membrane defect involving multiple tissues is present in this disorder.
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PMID:Freeze-fracture studies of erythrocyte plasma membrane in human neuromuscular diseases. 57 65

We present a clinical and morphological study concerning a kindred with slowly progressive X-linked muscular dystrophy (Becker type). Five males were affected; one died of heart failure at age 16. Severe and early cardiac disorder is unusual in this type of muscular dystrophy, and death at such an early age had not been reported previously. In the other patients of the kindred, cardiac abnormalities, if present at all, were nonspecific. Another unusual feature in this kindred was severe muscle pain at an early stage of the disease, a feature that cannot yet be explained.
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PMID:Early myocardial disease and cramping myalgia in Becker-type muscular dystrophy: a kindred. 57

We investigated lymphocyte capping in nine patients with muscular dystrophy (seven with Duchenne dystrophy and two with limb-girdle dystrophy), nine carriers, and five normal controls. No differences between the groups were observed. Thus, we have been unable to confirm a recent report that patients with muscular dystrophy, as well as carriers, have a defect in lymphocyte capping.
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PMID:Lymphocyte capping in muscular dystrophy. 57 86

Clinical and genetic studies were made on progressive muscular dystrophy in six young girls. No chromosome abnormality was observed in these patients. The pedigree of one case implied a sex-linked recessive trait, and clinical features were identical with Duchenne dystrophy. The clinical manifestations of two sisters in another family were less severe than in their brother with Duchenne dystrophy. The clinical differences among these three cases are well explained by the Lyon hypothesis. Three other cases were compatible with childhood muscular dystrophy of autosomal recessive inheritance.
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PMID:Muscular dystrophy in six young girls. 57 2

Out of 13 patients with congenital muscular dystrophy myoglobinemia was proven in four, and nine of 13 cases of Duchenne dystrophy showed myoglobinemia by counterimmunoelectrophoretic technique. Serum myoglobin was positive in 14 out of 15 patients whose serum creatinine phosphokinase (CPK) levels rose above 2500 units, whereas positive myoglobinemia was obtained in only one patient in eleven with lower CPK levels. All the myoglobinemic patients were less than 5 years of age in the case of congenital muscular dystrophy and less than 9 years of age in the case of Duchenne dystrophy. Thus, the leakage of myoglobin into the serum from the damaged muscle seemed closely correlated to the age of the patients and level of serum CPK, but not to the type of disease.
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PMID:Myoglobinemia in children with progressive muscular dystrophy. 64 64

PK and CPK have been determined in the serum from 208 individuals including 70 normal controls (61 adults and 9 children) and 138 patients with a variety of neuromuscular disorders. In adult controls the mean activity (+/- SE) for PK is 1.2 +/- 0.05 mumol/ml/h. In normal children PK activity was about twice as high as in normal adults and decreases with increasing age. In 26 patients with Duchenne dystrophy the range of serum PK was 4.0-150.4 and in 17 individuals with the Becker type, 3.0 to 148.7. All had elevated PK and CPK levels. Eighteen of 20 patients with the facio-scapulo-humeral (FSH) from of muscular dystrophy had increased PK while only 9 had elevated CPK. Regression analyses have shown an inverse correlation between PK levels and age (or degree of disability in DMD). Kinetic and electrophoretic studies indicate that the PK isozyme found in the serum from affected patients and from heterozygotes for the DMD gene is mainly the M1 type PK, which is the only PK isozyme found in skeletal muscle and brain and the major component from myocardium.
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PMID:Serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) in progressive muscular dystrophies. 68 67

Low levels of muscle carnitine have been found in patients with Duchenne dystrophy, a case possibly of Becker dystrophy, and limb-girdle syndrome as well as in patients with the recently described muscle carnitine deficiency syndrome. Tissues of the mouse, hamster, and chicken were analyzed to determine whether tissue carnitine levels were altered in the animal models of muscular dystrophy. Significantly higher levels of carnitine were found in dystrophic mouse muscle, but carnitine levels in plasma, liver and heart were normal. Histological changes in the skeletal muscle of dystrophic hamsters were relatively mild, and both skeletal muscle and plasma levels were normal. The liver carnitine level was higher than normal levels. The dystrophic hamster also had an inherited cardiomyopathy, and interestingly its heart carnitine level was much lower than normal. The red muscle of the normal chicken contained 5 times the level of carnitine found in white muscle. The dystrophic chicken had higher than normal levels of carnitine in the white muscle, but normal levels in the red muscle. Although all 3 animal models of muscular dystrophy studied have altered levels of carnitine in some tissue, none of the animal models had the same pattern of altered tissue carnitine levels seen in human patients.
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PMID:Altered tissue carnitine levels in animals with hereditary muscular dystrophy. 70 80

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

Four adolescent boys with Duchenne (progressive) muscular dystrophy (DMD) of 10-11 years duration and six normal boys of similar age were studied on a metabolism ward for 22 days. Sodium and potassium intake was as follows: Period I, Na 60 mEq, K 60 mEq; Period II, Na 10, K 60; Period III, Na 10, K 95-150; Period IV, Na 60, K 60. The differences between the DMD group and the group of normal boys for sodium and potassium in serum and urine and for urinary aldosterone were not significant. These findings show that the pathologically elevated sodium-potassium ratio in skeletal muscle of patients with DMD is not due to increased aldosterone or other causes of renal wastage of potassium.
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PMID:Urinary sodium, potassium and aldosterone in Duchenne muscular dystrophy. 83 56

To determine effects of severe muscular dystrophy on the performance of dynamic exercise, cardiorespiratory responses to incremental work on a bicycle ergometer and isokinetic limb strength measurements were compared for 13 dystrophic boys and 13 normal, untrained boys. The dystrophic boys (D) were matched to the normal boys (N) on the basis of age (8.4 yr), height (125 cm) and weight (25.7 kg). At rest, the dystrophic group had higher heart rates (HR) (D = 102; D = 31; N = 39 ml), with no difference in oxygen uptake (VO2), calculated cardiac output (Q), pulmonary ventilation (VE), or respiratory exchange ratio (R). During submaximal work, VO2, SV, Q and VE were lower in D. During maximal work, D had lower peak values for work rate (D = 400; N = 600 kg/min), endurance (D = 41; N = 60 ml), Q (D = 5.2; N = 11.0 liters/min), VE (D = 8.2; N = 36.9 liters/min), and R (D = 0.84; N = 0.99). Arm and leg strengths (four flexion and four extension motions) were lower in D, but muscle girths were not necessarily smaller. The findings indicate exercise performance in D was below normal and limited by low cardiorespiratory capacities, diminished leg strength, and perhaps reduced peripheral oxygen utilization. Duchenne muscular dystrophy, even in its early stages, apparently affects the work capacity of cardiac and pulmonary muscles as well as limb muscles.
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PMID:Exercise performance in 6-to-11-year-old boys with Duchenne muscular dystrophy. 85 90


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