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 person's sexual readjustment following a physical disability has traditionally been ignored by health care professionals. Since the occupational therapist often facilitates a person's resumption of activities of daily living, the therapist is in a special position to provide counseling. Understanding, support, and correct information are needed most. As derived from a search of the literature, sexual functioning is discussed in relation to the following disabilities: stroke, heart disease, diabetes mellitus, muscular dystrophy, multiple sclerosis, renal disease, spinal cord injury, pulmonary disease, arthritis, and alcoholism.
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PMID:Sexual functioning and the physically disabled adult. 13 7

The measurement of serum CK-MB isoenzyme is a very sensitive and specific indication of myocardial injury since only myocardium has substantial amounts of CK-MB. Serum CK-MB levels are most helpful clinically when the total creatine kinase is nonspecifically elevated, as with intramuscular injections, cardiac catheterization, stroke, noncardiac surgery and electric cardioversion. Elevations of serum CK-MB occurring in Duchenne's muscular dystrophy and other neuromuscular disorders may be due to the presence of abnormal regenerative skeletal muscle fibers, which are known to contain large amounts of CK-MB isoenzyme. These examples emphasize that under normal, nonregenerative conditions, elevations of serum CK-MB are rare in the absence of myocardial injury.
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PMID:Creatine kinase MB isoenzyme in the evaluation of myocardial infarction. 38 71

Twenty patients with different types of muscular dystrophy (MD) were included in a cross-sectional study by means of electrocardiography and ultrasound cardiography. A manifest cardiomyopathy was detected in 8 patients; a latent cardiomyopathy was found in 4. A hypertrophic cardiomyopathy was especially frequent in facioscapulohumeral MD, a congestive cardiomyopathy in Becker-Kiener MD. The ECG showed a reduction in the QT interval and frequent block formers in the X-chromosomal inherited forms and the trunc-girdle form. Bradycardia and a prolonged QT interval were frequent in myotonic dystrophy and facioscapulohumeral MD. Signs of cardiac infarction in the ECG were most frequent in the trunc-girdle forms. A high cardiac output per minute in conjunction with increased left ventricular volume was frequent in Becker-Kiener and Landouzy MD. A left ventricular dysfunction with reduced ejection was characteristic of myotonic dystrophy and trunc-girdle MD. A mitral valve prolapse was more frequent with increasing severity of the muscle disease and was particularly frequent in myotonic dystrophic and Landouzy MD. The cardiac output per minute and the stroke volume were significantly lower (P less than or equal to 0.03) where a mitral valve prolapse was present.
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PMID:The heart in muscular dystrophy: an electrocardiographic and ultrasound study of 20 patients. 179 Jan 64

In a Nigerian town with a stable population of 20,000, a door-to-door survey was conducted, using a questionnaire involving a complete census and a simple neurological evaluation which had previously showed a 95% sensitivity and an 80% specificity for detecting neurological disease. Positive responders were evaluated and categorised, using agreed criteria for diagnoses. Nearly 100% cooperation was obtained. Life prevalence ratio for at least one episode of headache was 51/1000. Crude point prevalence ratio for migrainous headache was 5.3/100, and peak age-specific ratio was in the first decade. Prevalence ratio for epilepsy was 533/100,000 and peak age-specific prevalence ratio occurred in the 5-14 years age groups. The prevalence ratio for peripheral nerve disorders was 268/100,000, and age-specific prevalence ratio for tropical neuropathy increased with age. Prevalence ratio for stroke was rather low at 58/100,000, but was probably due to the people's attitude to the disabled elderly and high mortality of stroke which showed annual mortality rate of 70/100,000 which increased with age to 1519/100,000 per year in the eighth decade. Crude prevalence ratios (cases per 100,000) for others are 112 for neurological complications (including sciatica) of spondylosis, 15 each for poliomyelitis, motor neurone disease, development speech disorders, 10 each for syncope, hereditary neuropathies. Parkinson's disease, benign essential tremor, primary cerebellar degeneration, cerebral palsy, mental retardation, organic psychosis (probable intracranial tumor) and 5 each for muscular dystrophy, pyomyositis, spina bifida occulta, alcohol dependence and cerebral malaria. The implications of the findings are important for development of community neurological services in the developing countries.
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PMID:Neurological disorders in Nigerian Africans: a community-based study. 303 73

We evaluated the frequency of cerebral infarction in 131 patients with Duchenne's muscular dystrophy, myotonic dystrophy, Becker's muscular dystrophy, or Friedreich's ataxia. Electrocardiographic abnormalities were found in 83% of patients with Duchenne's muscular dystrophy, 56% with myotonic dystrophy, 50% with Becker's muscular dystrophy, and 25% with Friedreich's ataxia. Atrial flutter occurred in 2.3% of the patients, and atrial fibrillation in only 0.9%. Evidence of cerebral infarction was found in only 2 patients (1.5%). Both patients had cardiomyopathy and either atrial fibrillation or flutter. Despite frequent cardiac involvement, cerebral infarction is an uncommon occurrence in patients with inherited neuromuscular diseases.
Stroke
PMID:Frequency of cerebral infarction in patients with inherited neuromuscular diseases. 360 8

While deficient exercise performance of sick children results from hypoactivity and detraining, it can also be caused by specific pathophysiological factors. These can affect one or more components of physical fitness. A low maximal aerobic power will result from a low maximal stroke volume, as in aortic stenosis or cardiomyopathy; a low maximal heart rate, as in congenital complete heart block or intake of beta-blockers; a low O2 content of the arterial blood, as in anemia or advanced cystic fibrosis; and a high O2 content of mixed-venous blood, as in muscle atrophy or severe malnutrition. A high O2 cost of locomotion, as in advanced obesity or cerebral palsy, will cause the patient to exert at a high percentage of his maximal aerobic power and thus fatigue easily. A subnormal muscle strength, as in progressive muscular dystrophy or juvenile rheumatoid arthritis, is sometimes the primary factor that limits the walking ability or other daily functions. Recent data suggest that local muscle endurance, as assessed by the Wingate anaerobic test, is particularly deficient in some neuromuscular diseases. Examples are muscular dystrophies and spastic cerebral palsy. The ratio of peak anaerobic power to peak aerobic power seems lower in such patients than in able-bodied controls.
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PMID:Pathophysiological factors which limit the exercise capacity of the sick child. 372 7

Cardiac disease is commonly associated with virtually every form of muscular dystrophy and myopathy. A double-blind and open crossover trial on the oral administration of coenzyme Q10 (CoQ10) to 12 patients with progressive muscular dystrophies and neurogenic atrophies was conducted. These diseases included the Duchenne, Becker, and limb-girdle dystrophies, myotonic dystrophy, Charcot-Marie-Tooth disease, and Welander disease. The impaired cardiac function was noninvasively and extensively monitored by impedance cardiography. Solely by significant change or no change in stroke volume and cardiac output, all 8 patients on blind CoQ10 and all 4 on blind placebo were correctly assigned (P less than 0.003). After the limited 3-month trial, improved physical well-being was observed for 4/8 treated patients and for 0/4 placebo patients; of the latter, 3/4 improved on CoQ10; 2/8 patients resigned before crossover; 5/6 on CoQ10 in crossover maintained improved cardiac function; 1/6 crossed over from CoQ10 to placebo relapsed. The rationale of this trial was based on known mitochondrial myopathies, which involve respiratory enzymes, the known presence of CoQ10 in respiration, and prior clinical data on CoQ10 and dystrophy. These results indicate that the impaired myocardial function of such patients with muscular disease may have some association with impaired function of skeletal muscle, both of which may be improved by CoQ10 therapy. The cardiac improvement was definitely positive. The improvement in well-being was subjective, but probably real. Likely, CoQ10 does not alter genetic defects but can benefit the sequelae of mitochondrial impairment from such defects. CoQ10 is the only known substance that offers a safe and improved quality of life for such patients having muscle disease, and it is based on intrinsic bioenergetics.
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PMID:Biochemical rationale and the cardiac response of patients with muscle disease to therapy with coenzyme Q10. 385 73

Phenytoin has a wide range of pharmacologic effects other than its anticonvulsant activity. It has been the subject of more than 8,000 published papers, which include clinical reports of its usefulness in approximately 100 diseases and symptoms. In the United States the only indications for use in the official labeling for phenytoin are various types of seizures. An advisory committee of the Food and Drug Administration recently recommended the addition of certain cardiac arrhythmias to the labeling. To determine whether other uses should be added to the labeling and whether additional clinical trials should be encouraged, an in-depth review of the published literature was undertaken. This review revealed that, on the basis of controlled studies, phenytoin is probably useful in the continuous muscle fiber activity syndrome, myotonic muscular dystrophy, and myotonia congenita. In addition, phenytoin appears to be potentially useful in recessive dystrophic epidermolysis bullosa, intermittent explosive disorder, anxiety disorder in which anger and irritability are prominent features, and, topically, in burns and refractory skin ulcers. Additional clinical studies are needed before definitive conclusions can be drawn. Clinical trials of phenytoin in most of these disorders are ongoing or are contemplated. Any labeling changes will await results of the studies. Based on phenytoin's pharmacologic effects in animals, controlled trials of the drug appear to be warranted in cerebral ischemia and stroke, spinal cord injury, angina pectoris, and fractures in which the rate of healing is poor.
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PMID:Phenytoin revisited. 638 10

Both achalasia and Hirchsprung's disease arise from defects of innervation of the oesophagus and distal large bowel respectively. Their consequences are confined to disorders of motility in the relevant part of the gastrointestinal tract. Many neurogenic and primary muscle disorders are associated with abnormalities of gut motility. Stroke, even when unilateral, is commonly associated with dysphagia. Transcranial magnetoelectric stimulation has established that the pharyngeal phase of swallowing tends to receive its innervation principally from one hemisphere. In many neurological disorders, dysphagia is only one part of the clinical picture but in some--for example, the Chiari malformation--dysphagia may be the sole or major feature. Disturbances of small and large bowel motility, when seen in neurogenic disorders, are associated with autonomic neuropathy and are particularly common in diabetes mellitus. Primary muscle disorders can lead to dysphagia (for example, with polymyositis or oculopharyngeal dystrophy) or defects of large bowel motility (for example, with Duchenne's muscular dystrophy). Primary gut disorders particularly associated with neurological disease include pernicious anaemia, nicotinamide and thiamine deficiencies, selective vitamin E deficiency, and coeliac disease. Inflammatory bowel disease is associated with thromboembolic complications which may include the CNS, inflammatory muscle disease, and abnormalities on MRI of the brain of uncertain relevance. Whipple's disease is a rare condition which sometimes is largely or entirely confined to the CNS. In such cases, a particular neurological presentation can indicate the diagnosis.
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PMID:Neurology and the gastrointestinal system. 1040 May 14

We evaluated cranial CT findings of 160 patients with various type of progressive muscular dystrophy (PMD). Significant brain atrophy was observed in 21 out of 63 cases of Duchenne muscular dystrophy (DMD), 7 out of 15 Becker muscular dystrophy (BMD), no case of 2 female dystrophinopathy (F-dyst), 11 out of 21 limb-girdle muscular dystrophy (LG), all cases of 10 Fukuyama type congenital muscular dystrophy (FCMD), 2 out of 5 fascioscapulohumeral muscular dystrophy (FSH), and 32 out of 44 myotonic dystrophy (MyD). Genetical degenerative process and vascular insufficiency seemed to cause brain atrophy in these disease. The intracranial calcification was observed in one DMD, one LG and seven MyD. One LG patient showed focal atrophy in left temporal lobe, and one MyD demonstrated right temporal meningioma. The trace of cerebral vascular accident was disclosed in eleven patients with PMD (1 DMD, 2 BMD, 1 F-dyst, 2 LG, 5 MyD). In these cases, 2 patients had dilated cardiomyopathy, 6 patients with decreased left ventricular ejection fraction, 3 with atrial fibrillation, 1 with cardiac arrest followed by pacemaker instillation, 1 with Adam-Stokes attack, and 3 with 1 degree AV-block. Diffuse low density in the white matter was seen in a patient with F-dyst, a FCMD patient, and 8 MyD patients. Cardiac emobolism, severe arrythmia, cardiogenic shock and hemodynamic disorder were seemed to cause cerebral vascular disease in PMD.
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PMID:[Evaluation of cranial CT findings of patients with muscular dystrophy: with a reference to cerebral vascular disease and cardiac complications]. 1045 50


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