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)

Seventy-nine women known as, or suspected to be, carriers of the Duchenne type of muscular dystrophy were examined. The 15 known carriers had an estimation of the CPK serum level and a manual quantitative EMG, which gave the high detection rate of 93%. The 64 suspected carriers had CPK determination and quantitative EMG, or CPK and muscle biopsy, and the value of each technic is discussed. The problem of giving a reassuring answer to women considered to be possible carriers on genetic criteria, but who are not really carriers, is solved if the results of all three tests are negative.
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PMID:Quantitative EMG and histological carrier detection of Duchenne muscular dystrophy. 7 7

Intravenous administration of a single dose of hydrocortisone to patients with the Duchenne type of progressive muscular dystrophy, carriers of Duchenne dystrophy gene caused a short-lasting rise of the serum creatine kinase activity. Administration of hydrocortisone also raised the serum CPK activity in some carriers with a primarly normal CPK level. This phenomenon was observed, though to a lower degree, in limb-girdle muscular dystrophy. The serum CPK activity was sometimes increased after hydrocortisone administration in patients with polymyositis and Kugelberg-Welander spinal muscular atrophy. This phenomenon was never observed in the control group or in cases of myotonic dystrophy. The mechanism of this effect of hydrocortisone on the CPK level is still unknown.
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PMID:The effect of hydrocortisone on the serum creatine kinase activity of muscles diseases. 7 11

In the last five years 48 possible carries and 13 known carriers of the gene for the Duchenne type of muscular dystrophy were studied in the Neurological Institute of the University of Milan. To achieve the most accurate detection, the following tests are recommended: a) the serum creatine kinase (CPK) estimation; b) quantitative EMB test on 3 muscles (deltoid, biceps and vastus medialis), in case of normal CPK level; c) histological and histochemical studies, only if tests a) and b) are uniformative.
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PMID:[Prevention of duchenne's muscular dystrophy: methodological problems in the detection of carriers (author's transl)]. 61 16

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

The effect of Trichostrongylus colubriformis on lambs maintained on a ration containing a low level of selenium and on animals receiving vitamin E and Se supplementation was investigated. The pathological changes seen in control animals slaughtered at the start of the experiment and in the animals which died during the course of the investigation revealed a high level of nutritional muscular dystrophy (NMD) in the lambs. There were no marked haematological changes in the control or infested sheep. Infestation was characterized by slight hypoalbuminaemia and gamma-globulinaemia. Serum levels of the enzymes AAT and CPK, which are important indicators of muscle necrosis and NMD, were greatly increased in sheep infested with T. colubriformis and not receiving supplementary Vit. E + Se. Data from this study therefore indicates that trichostrongylosis may aggravate the degree of muscle necrosis in lambs prone to the development of NMD.
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PMID:Haematological changes caused by Trichostrongylus colubriformis in lambs fed a dystrophogenic diet. 91 93

Massive myoglobinuria developed in a patient given halothane and IV succinylcholine, Marked elevations of serum CPK were found in the patient and several family members. Myopathic changes in electromyogram and lack of neuromuscular symptoms and physical findings prompted the diagnosis of familial nonprogessive muscular dystrophy. Other hereditary muscular diseases were eliminated by medical workup. It is recommended that patients with known myopathy or unexplained elevations of serum CPK not receive the combination of halothane and succinylcholine.
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PMID:Massive myoglobinuria precipitated by halothane and succinylcholine in a member of a family with elevation of serum creatine phosphokinase. 98 23

The AA. have carried out in patients affected by proved myocardial infarct, by other cardiac diseases and by muscular dystrophy the following enzymes determinations: total CPK, total LDH, SGOT, SGPT, HBDH, CPK isoenzymes by column chromatography (Mercer's method) and LDH isoenzymes either by column chromatography (Mercer's method) and by electrophoretic separation. Some results concerning the appearance of the CK-MB isoenzymes during the acute period of the myocardial infarction are described.
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PMID:[Determination of CPK isoenzymes by column chromatography (author's transl)]. 102 94

Our purpose was to determine whether an apparently healthy patient who died under general anaesthesia had malignant hyperpyrexia by examining her relatives and to suggest protective measures for the relatives of the deceased patient against this complication during future general anaesthetics. The family members of the deceased patient were examined systematically to determine whether or not they were prone to develop malignant hyperpyrexia. Raised serum CPK and aldolase levels, EMG changes, histopathological examination of the striated muscle, diminished muscle power during an ergometric test, and subjective symptoms revealed that other members of her family had muscular dystrophy. Our results support the theory that during general anaesthesia patients with muscular dystrophy are prone to develop malignant hyperpyrexia. Although muscular dystrophy is uncommon in Finland, affected persons should be catalogued, and preventive measures against malignant hyperpyrexia taken if they ever have to have a general anaesthetic.
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PMID:Malignant hyperpyrexia. A study of an affected family. 113 33

Three cases of muscular dystrophy are reported on (8 years, 4 months, 10 months) in which serious conditions arose under anaesthetic (bradycardia, asystolia, hyperkalemia, rising CPK). In the first two cases there was no way of avoiding a fatal outcome, but in the third case the child survived with no permanent damage. The cause of incidents of this kind is discussed first as being hyperkalemia due to acute rhabdomyolysis, and secondly malign hyperthermia. There were no indications of malign hyperthermia in this case. It is hardly possible to distinguish this in an acute clinical ward, as the clinical symptoms are very similar. If it is known that muscular dystrophy is present, depolarising relaxants should be given sparingly. This also applies, as the first case shows, for muscular dystrophy of the Becker type, which can on the whole be regarded as benign in comparison with progressive muscular dystrophy of the Duchenne type. In this instance a forensic and anaesthetic expert's opinion even had to be produced at the request of the Public Prosecutor. The post mortem was carried out under the heading of a possible "mistaken medical treatment" but there was no evidence to justify such an assumption.
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PMID:[Muscular dystrophy as a risk factor in anesthesia]. 150 47

Various types of the distal myopathy except Welander's late distal myopathy of Swedish type were described. There were many reports in the past concerning the varieties of the distal myopathy. Distal myopathy is a rather rare disorder and it may be difficult to diagnose these cases. Among these various distal myopathy, an emphasis was made upon the clinical and pathological characteristics of the diseases, particularly distal muscular dystrophy of Miyoshi, Distal myopathy with rimmed vacuole formation of Nonaka and ours, and Oculo-pharyngo-distal myopathy. All these diseases show the distal muscle involvement but the clinical features, heredity, course and pathological features are quite different, and prognosis is also different. Accordingly when we examined these distal myopathy cases, clinical characteristics and histo-pathological findings should be carefully studied. It should be also emphasized that the level of serum CPK dose not indicate the severity of the myopathy. In muscular dystrophy or myositis, serUm CPK elevates remarkably and we can consider the level of CPK as a sign of the severity or condition of the disease. However, in myopathy as "rimmed vacuole distal myopathy" serum CPK remains in normal level even though weakness is severe. This is due to absence of the membrane abnormalities of muscle cells. Leakage of the CPK from muscle cells, therefore, does not reflect the degree of the cell destruction. In this point we have to remember the fact that serum CPK is not a indicator of all muscle diseases and even if the CPK is normal, we have to consider the presence of myopathy.
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PMID:Distal myopathy. 208 93


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