Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

On the grounds of clinical, electro- and echo-cardiographic examination of 39 patients with hypertrophic cardiomyopathy from 3 to 15 years of age three types of this pathological condition are distinguished: asymmetrical septal hypertrophy, idiopathic hypertrophic subaortic stenosis and symmetrical hypertrophic cardiomyopathy. The value of signs of hypertrophic myopathy obtained on clinical and instrumental examination is discussed. The high diagnostic value of echocardiography in the examination of patients is emphasized.
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PMID:[Hypertrophic cardiomyopathy in children (clinico-echocardiographic study)]. 15 5

A patient with McArdle's disease is reported in whome proximal muscle weakness began in the 7th decade. Other unusual features included the absence of muscle cramps at any stage, asymmetrical wasting of the shoulder girdle muscles and calf hypertrophy. Muscle biopsy revealed a vacuolar myopathy, absent phosphorylase staining and qualitatively low glycogen content.
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PMID:McArdle's disease--what limit to the age of onset? 27 90

We report a study, assessing involvement of the heart in 33 familial cases of Becker muscular dystrophy (BMD), 31 familiar cases of facioscapulohumeral (FSH) dystrophy, and 27 familial cases of Bethlem myopathy. In the patients with BMD, correlations of myocardial involvement with age and extent of musculoskeletal involvement were made. We performed physical examination, chest x-ray, electrocardiographic (EKG), and echocardiographic examination on all patients, and continuous EKG Holter-monitoring in the patients with FSH dystrophy. Thirteen patients with BMD (45%) showed EKG changes similar to those found in Duchenne muscular dystrophy. Only 1 of the 13 individuals with cardiac involvement was wheelchair-bound. We found no evidence of cardiac changes in the patients with FSH dystrophy. In Bethlem myopathy, only 1 patient had a form of hypertrophic cardiomyopathy (asymmetrical septal hypertrophy).
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PMID:The heart in Becker muscular dystrophy, facioscapulohumeral dystrophy, and Bethlem myopathy. 158 51

In a heart with hypertrophic cardiomyopathy without asymmetrical septal hypertrophy the number of transmural myocytes, the mean size of myocytes, and the percentage area of interstitial space were similar in the ventricular septum and left ventricular posterior wall, whereas in a reported series of 14 hearts with hypertrophic cardiomyopathy with asymmetrical septal hypertrophy the number of transmural myocytes was greater in the ventricular septum than in the left ventricular posterior wall. In hearts with hypertrophic cardiomyopathy without asymmetrical septal hypertrophy the mean size of myocytes was significantly greater than that of normal hearts, but the number of transmural myocytes was not increased. The extent and distribution pattern of myocardial fibre disarray and fibrosis in the left ventricle were similar in hearts with hypertrophic myopathy whether or not asymmetrical septal hypertrophy was present.
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PMID:Pathological features of hypertrophic cardiomyopathy without asymmetrical septal hypertrophy. 375 46

A middle-aged man presented with a thirty-year history of progressive, asymmetrical limb-girdle weakness. The muscle biopsy revealed a vacuolar myopathy. The vacuoles which did not disrupt the fibre outline, lay in a subsarcolemmal position. They were PAS-positive and the material was partially resistant to diastase digestion. Electron microscopy showed the vacuoles to contain free unbound glycogen with filamentous material. Leucocyte brancher enzyme activity was normal but the muscle activity was less than half the control value. Histochemical and ultrastructural characteristics of the storage material resemble the amylopectin polysaccharide deposits seen in childhood Type IV glycogenosis.
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PMID:An adult case of Andersen's disease--Type IV glycogenosis. A clinical, histochemical, ultrastructural and biochemical study. 657 39

We report a hereditary muscle disorder with features of inclusion body myositis (IBM) in two adult sisters with slowly progressive asymmetrical muscle weakness. The findings of light microscopic and ultrastructural investigations of muscle biopsy specimens were consistent with a diagnosis of IBM. Both patients improved and stabilized on immunosuppressive treatment with corticosteroids and azathioprine. This differentiates our patients from other sporadic and familial cases of IBM. Clinical and histological features are described and compared with those of other previously reported families with IBM.
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PMID:Glucocorticoid-sensitive hereditary inclusion body myositis. 875 May 48

Miyoshi-type distal muscular dystrophy has now been found to be more frequent outside Japan than was previously thought. We studied 24 Dutch patients with Miyoshi-type distal muscular dystrophy and focused on its clinical expression and natural history, muscle CT-scans and muscle biopsy findings. Our study shows that Miyoshi myopathy is a heterogeneous, slowly progressive disorder. The disease starts with weakness and atrophy of the calves and progressively involves the proximal leg and hip muscles and, in a later stage the shoulder and upper arm muscles. After 10 years disease duration, one-third of the patients are dependent on wheelchairs for out-of-door transportation. Disease progression is related to disease duration and not to early age of onset of symptoms. Onset may be at any age and is asymmetrical in roughly half of the cases. Four cases had been initially diagnosed as idiopathic hyper-CK-aemia.
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PMID:Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients. 939 16

Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive myopathy with autosomal dominant inheritance remarkable for its early involvement of facial musculature. The purpose of our study was to assess the rate of strength deterioration, functional condition and performance of activity of daily living of patients with FSHD in Taiwan. Twenty patients diagnosed with FSHD were included in this study. Manual muscle testing (MMT) was used to evaluate muscle strength. The Brooke and Vignos scales were used to assess upper and lower extremity function respectively, and the capability of the activity of daily living was measured by Barthel index. The result of the strength testing was characterized by the presence of a progressive asymmetrical muscular weakness in patients with FSHD. The mean muscular strength of the right extremity was weaker than its left counterparts (p < 0.05) and the shoulder muscle group was the weakest. According to the Brooke functional scale, 20% of our patients were graded as 1, 30% as grade 2, and 50% as grade 3. On the Vignos functional scale, 50% of patients fell into grade 1, 10% in grade 2, and 40% in grades 3-5. Vignos scale was significantly correlated with mean muscle strength (p < 0.05). The average value of Barthel index was 97.8 +/- 4.7. The muscle strength decline in this Taiwanese of FSHD population was more severe in shoulder girdle area. The mean muscle strength of the right extremity was weaker than the left. Most of our patients suffered from mild or moderate physical disability. Finding of these Taiwanese FSHD population is similar to those reported elsewhere in the world.
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PMID:The strength and functional performance in patients with facioscapulohumeral muscular dystrophy. 1096 20

The use of drugs for treating neuromuscular impairments that present in the patient admitted to the Intensive Care Unit is virtually inexistent. The use of intravenous immunoglobulins for managing polyneuropathy of the critically ill patient (PCIP) is supported by no evidence. More important is prophylactic therapy, as is the administration of insulin perfusion to prevent hyperglycemia that is associated to increased development of PCIP. New data suggest that the protective mechanism of this perfusion, which normalizes glucose levels, is achieved through the modulation of endothelial dysfunction and lowering levels of asymmetrical di-methyl arginine (ADMA). As for myopathy of the critically ill patient or conditions with prolonged neuromuscular blockade, treatment consists in avoiding the use of several drugs known to be associated with development of these conditions, such as muscle relaxants and aminoglycosides. In relation to acute flaccid paralysis -an infection caused by the Western Nile Virus, anecdotic cases have been reported of improvement with the use steroids or interferon, although routine management remains to be established.
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PMID:[Pharmacological treatment neuromuscular impairments in critically ill patients]. 1676 38

Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of pathologies. We have identified a cohort of 14 French-Canadian patients from eight different families displaying a novel form of LGMD with an autosomal recessive inheritance. These patients share some features with previously described cases of 'quadriceps myopathy' that evolved into an LGMD. All demonstrate quadriceps femoris asymmetrical atrophy. Creatine kinase values were variable from normal to 6000 U/l. Clinical evaluations and MRI studies demonstrate a variable intrafamilial and interfamilial phenotype. Asymmetrical muscle involvement was clinically observed and confirmed by imaging. MRI studies suggest that the hamstrings and the adductor magnus are the first limb muscles to demonstrate fatty infiltration. Muscle pathology shows no sign of active inflammation but increased endomysial connective tissue associated with basal lamina duplication and collagen disorganization. A genome-wide scan using the two largest families uncovered linkage to marker D11S1360 on chromosome 11p12 [multipoint logarithm of the odds (LOD) score of 2.78]. Further genotyping for the eight families confirmed linkage to this new LGMD locus (multipoint LOD score of 4.56). Fine mapping subsequently defined a less than 3.3 cM candidate interval on 11p13-p12. Haplotype analysis of carrier chromosomes suggests that the most frequent mutation may account for up to 81.3% of French-Canadian mutations. In this study, we describe the chromosomal locus of a new form of recessive LGMD with prominent quadriceps femoris atrophy.
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PMID:A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. 1700 31


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