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)

Pompe's disease (acid maltase deficiency) classically affects infants and children, with a few sporadic cases occurring in adults. An adult patient initially have progressive muscular weakness, exertional dyspnea, diaphragmatic paralysis, and objective evidence of restrictive respiratory disease. Muscle biopsy established the diagnosis of acid maltase deficiency. The patient's brother had died at the age of 44 years, after 23 years of a "progressive muscular dystrophy." Acid maltase deficiency should be considered in the differential diagnosis of progressive respiratory insufficiency associated with weakness.
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PMID:Adult-onset acid maltase deficiency. Case report of an adult with severe respiratory difficulty. 26 57

The BIO 14.6 dystrophic hamster has been used extensively over the past 30 years as an animal model in which to study the mechanisms responsible for the development of cardiomyopathy and skeletal muscle dysfunction associated with muscular dystrophy. More recently, structural and functional aspects of the respiratory system of this animal model have been investigated. This review summarizes our current knowledge of ventilation, lung morphometry and mechanics, the structure and function of the diaphragm, tracheal and pulmonary vascular smooth muscle, and pulmonary macrophages in the BIO 14.6 dystrophic hamster. We conclude that many aspects of the structure and function of the respiratory system of this hamster warrant further investigation, including the development of alveolar hypoventilation, the causes of pulmonary vascular hyporeactivity, and the potential contribution of abnormal pulmonary macrophages to the pathogenesis of life-threatening respiratory disease in muscular dystrophy.
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PMID:Structure and function of the respiratory system of the dystrophic hamster. 211 6

Duchenne's muscular dystrophy (DMD), characterized by gradually developing muscular weakness, leads to respiratory symptoms and reduced lung function. We aimed to assess lung function in 25 patients with DMD in relationship to age and muscular function. The 25 boys, mean age 13 years, comprized patients in southern Norway with DMD, taking part in an epidemiological follow-up study. None had chronic respiratory disease. Lung function was measured by maximum expiratory flow-volume loops and whole body plethysmography, and repeated after 1 year (n= 14). Lung function was reduced compared to predicted values for healthy children. Forced expiratory volume in 1 sec (FEV1)% predicted and forced vital capacity (FVC)% predicted correlated (significantly) inversely to age. FEV1 and FVC decreased annually 5.61 and 4.2% of predicted, respectively. Absolute values of FVC (litres) and FEV1 (1 sec(-1)) increased until mean age 14 years, decreasing thereafter. Values in % predicted decreased steadily throughout the age range (6-19 years). Lung function correlated closely to upper limb muscle function.
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PMID:Lung function in children with Duchenne's muscular dystrophy. 1171 4

Asphyxia, not an uncommon cause of sudden death, may result from numerous etiologies. Foreign-body aspiration and strangulation are 2 extrinsic causes. Airway obstruction may also be caused by laryngeal edema, asthma, infection, or anaphylaxis. Chronic causes of asphyxia include musculoskeletal diseases (eg, muscular dystrophy, amyotrophic lateral sclerosis), neurologic disorders (eg, myasthenia gravis, multiple sclerosis), respiratory disease (eg, emphysema, chronic bronchitis), or tumors. The manner of death in cases of asphyxiation may be natural, accidental, homicide, or suicide. For the death investigator, determining the cause and manner of death can often be quite challenging. We report here 2 cases of an esophageal fibrovascular polyp causing sudden asphyxial death, review of the literature, and discussion of other differential diagnoses in the case of asphyxial death.
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PMID:Sudden death due to asphyxia by esophageal polyp: two case reports and review of asphyxial deaths. 1612 Oct 86

Progressive muscle weakness beginning at 6 months of age was observed in a male Persian-mix cat. Muscle atrophy and joint contracture progressed over the next 3 years. The cat had developed gait difficulty at 8 months of age. The cat died at age of 5 years and 3 months due to an acute respiratory disorder. The clinical, laboratory, necropsy and histopathological findings of the cat were consistent with those of muscular dystrophy. The cat was diagnosed as having laminin alpha2 (merosin)-deficient muscular dystrophy on the basis of immunohistochemical findings. The cat was born in an inbred colony, and another related cat exhibited similar clinical signs. Few cases of laminin alpha2-deficient muscular dystrophy have been reported in cats, and this report provides additional information about the disease.
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PMID:Long-term follow-up of laminin alpha2 (merosin)-deficient muscular dystrophy in a cat. 1824 45

Children with abnormal liver function can often be seen in outpatient clinics or inpatients wards. Most of them have respiratory disease, or gastroenteritis by virus infection, accompanying fever. Occasionally, hepatitis by the viruses causing systemic infection may occur, and screening tests are required. In patients with jaundice, the tests for differential diagnosis and appropriate treatment are important. In the case of a child with hepatitis B virus infection vertically from a hepatitis B surface antigen positive mother, the importance of the recognition of immune clearance can't be overstressed, for the decision of time to begin treatment. Early diagnosis changes the fate of a child with Wilson disease. So, screening test for the disease should not be omitted. Non-alcoholic fatty liver disease, which is mainly discovered in obese children, is a new strong candidate triggering abnormal liver function. Muscular dystrophy is a representative disease mimicking liver dysfunction. Although muscular dystrophy is a progressive disorder, and early diagnosis can't change the fate of patients, it will be better to avoid parent's blame for delayed diagnosis.
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PMID:Abnormality on liver function test. 2451 18

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder in which loss of the dystrophin protein causes progressive skeletal/cardiac muscle degeneration and death within the third decade. For clinical trials and supportive animal studies, DMD disease progression and response to treatment must be established using outcome parameters (biomarkers). The 6-minute walk test (6MWT), defined as the distance an individual can walk in 6 minutes, is commonly used in DMD clinical trials and has been employed in dogs to characterize cardiac and respiratory disease severity. Building on methods established in DMD and canine clinical studies, we assessed the 6MWT in dogs with the DMD genetic homolog, golden retriever muscular dystrophy (GRMD). Twenty-one cross-bred golden retrievers were categorized as affected (DMD mutation and GRMD phenotype), carrier (female heterozygous for DMD mutation and no phenotype), and normal (wild type DMD gene and normal phenotype). When compared to grouped normal/carrier dogs, GRMD dogs walked shorter height-adjusted distances at 6 and 12 months of age and their distances walked declined with age. Percent change in creatine kinase after 6MWT was greater in GRMD versus normal/carrier dogs at 6 months, providing another potential biomarker. While these data generally support use of the 6MWT as a biomarker for preclinical GRMD treatment trials, there were certain limitations. Results of the 6MWT did not correlate with other outcome parameters for GRMD dogs when considered alone and an 80% increase in mean distance walked would be necessary to achieve satisfactory power.
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PMID:Use of the six-minute walk test to characterize golden retriever muscular dystrophy. 2781 9

Respiratory disease is a leading cause of morbidity in people with Duchenne muscular dystrophy and also occurs in the golden retriever muscular dystrophy (GRMD) model. We have previously shown that adult GRMD dogs have elevated expiratory flow as measured non-invasively during tidal breathing. This abnormality likely results from increased chest and diaphragmatic recoil associated with fibrosis and remodeling. Treatments must reverse pathologic effects on the diaphragm and other respiratory muscles to maximally reduce disease morbidity and mortality. Here, we extended our work in adults to younger GRMD dogs to define parameters that would be helpful in preclinical trials. Tidal breathing spirometry and respiratory inductance plethysmography were performed in GRMD dogs at approximately 3 and 6 months of age, corresponding to approximately 5-10 years in DMD, when clinical trials are often conducted. Expiratory flows were markedly elevated in GRMD versus normal dogs at 6 months. Values increased in GRMD dogs between 3 and 6 months, providing a 3-month window to assess treatment efficacy. These changes in breathing mechanics have not been previously identified at such an early age. Expiratory flow measured during tidal breathing of unsedated young GRMD dogs could be a valuable marker of respiratory mechanics during preclinical trials.
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PMID:Expiratory dysfunction in young dogs with golden retriever muscular dystrophy. 3307 Oct 66