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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The paper reports an association of limb-girdle muscular dystrophy and autonomous functioning thyroid nodule in two brothers and in one sister, a healthy carrier of this muscular dystrophy and with analogous thyroid pathology. It is interesting to outline the rarity of this association and the affinity of the clinical and electromyography pictures in thyrotoxic myopathy and in muscular dystrophy. In this three patients were studied: the muscular enzymes, electromyography and biopsy, HLA typing, thyroid scanning, thyroid hormone levels and TGA and TMA antibodies. However, the peculiarity of this case report may suggest the influence of genetic factors; moreover the existence of possible linkage between HLA system and association of two pathologies must be excluded, taking in account that the results of HLA types in these three Germans indicate different haplotypes.
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PMID:[Association of sporadic limb-girdle muscular dystrophy and autonomous thyroid nodule in 3 Germans]. 180 12

A thorough histological description of 17 patients with congenital muscular dystrophy (CMD) is presented. The biopsies were performed in the left superficial deltoid muscle and processed with histochemical techniques. All samples showed connective tissue proliferation, changes in the internal architecture, necrosis, increase of adipose tissue, macrophagia, fiber regeneration and segmentation, central nuclei, and type I fiber predominance. The histological hallmarks of this entity are the marked endomysial connective tissue proliferation that frames one fiber from the other, and the important changes in the fiber's internal architecture. Those two abnormalities are extremely helpful to differentiate, on histological grounds, CMD from limb girdle muscular dystrophy and Duchenne/Becker muscular dystrophy. CMD presents a particular natural course and should be individualized apart from other muscular dystrophies.
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PMID:[Congenital muscular dystrophy: histochemical study of the skeletal muscle in 17 patients]. 181 Feb 37

Computed tomography (CT), ultrasonography (US) and low field magnetic resonance imaging (MRI) of muscles were performed in 13 patients of a large family with two clinically separate phenotypes of muscular dystrophy. Five patients had severe proximal muscle weakness and wasting like in limb-girdle muscular dystrophy. Imaging methods showed loss of muscle structure and replacement with adipose tissue especially in proximal muscles. Eight patients had distal myopathy of late onset with weakness and wasting of anterior tibial muscles. Imaging methods confirmed fatty degeneration of tibial muscles and, moreover, revealed unexpected large patchy lesions in several other clinically unaffected muscles. Our results indicate that some myopathies which are clinically localized, may actually have a more widespread patchy involvement as revealed by non-invasive imaging methods. In this family CT and MRI were more informative concerning lesions and distribution than US.
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PMID:Imaging methods reveal unexpected patchy lesions in late onset distal myopathy. 182 7

Of the 3,048 diagnostic muscle biopsies processed by the National Institute of Neuroscience, Tokyo, over 12 years, 41 cases carried the clinical diagnosis of limb-girdle muscular dystrophy. We have analyzed all 41 cases for dystrophin content in muscle by both immunofluorescence and immunoblot. We identified five male patients with an abnormal dystrophin pattern diagnostic of Becker muscular dystrophy, and two female patients with dystrophin patterns consistent with a manifesting carrier of Duchenne muscular dystrophy diagnosis. Thus, 17% of our limb-girdle patients showed a dystrophinopathy, indicating that they in fact had a disorder related to Duchenne/Becker muscular dystrophy. Misclassification of isolated male limb-girdle patients was 31% (4/13), while misclassification of isolated female limb-girdle patients was 13% (2/15). Using multiplex polymerase chain reaction analyses of small amounts of muscle biopsy DNA confirmed a dystrophin gene deletion in all five male Becker dystrophy patients identified. This study emphasizes the clinical overlap between limb-girdle muscular dystrophy and dystrophinopathies, and reinforces the necessity of dystrophin protein and gene studies for the accurate clinical diagnosis of isolated cases of muscular dystrophy.
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PMID:The frequency of patients with dystrophin abnormalities in a limb-girdle patient population. 146 19

One of female MZ twins presented with muscular dystrophy. Physical examination, creatine phosphokinase levels, and muscle biopsy were consistent with Duchenne muscular dystrophy (DMD). However, because of her sex she was diagnosed as having limb-girdle muscular dystrophy. With cDNA probes to the DMD gene, a gene deletion was detected in the twins and their mother. The de novo mutation which arose in the mother was shown by novel junction fragments generated by HindIII, PstI, or TaqI when probed with cDNA8. Additional evidence of a large gene deletion was given by novel SfiI junction fragments detected by probes p20, J-Bir, and J-66 on pulsed-field gel electrophoresis (PFGE). Immunoblot analysis of muscle from the affected twin showed dystrophin of normal size but of reduced amount. Immunofluorescent visualization of dystrophin revealed foci of dystrophin-positive fibers adjacent to foci of dystrophin-negative fibers. These data indicate that the affected twin is a manifesting carrier of an abnormal DMD gene, her myopathy being a direct result of underexpression of dystrophin. Cytogenetic analysis revealed normal karyotypes, eliminating the possibility of a translocation affecting DMD gene function. Both linkage analysis and DNA fingerprint analysis revealed that each twin has two different X chromosomes, eliminating the possibility of uniparental disomy as a mechanism for DMD expression. On the basis of methylation differences of the paternal and maternal X chromosomes in these MZ twins, we propose uneven lyonization (X chromosome inactivation) as the underlying mechanism for disease expression in the affected female.
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PMID:Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. 218 Feb 86

A 42-year-old man with limb-girdle muscular dystrophy who showed prominent cardiac involvement is described. He was treated for and diagnosed with dilated cardiomyopathy before admission. Initially, no overt feature of muscular dystrophy was evidenced, but serum enzymes were elevated. During the 2-year follow-up period, distinct features of muscular dystrophy appeared, and muscle biopsy confirmed the diagnosis. He was regarded as experiencing a sporadic occurrence. Because some patients diagnosed with and treated for dilated cardiomyopathy may have similar results, this form of muscular dystrophy should be recognized as occasionally associated with cardiac muscle disease.
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PMID:Marked cardiac involvement in limb-girdle muscular dystrophy. 235 53

In patients with Duchenne muscular dystrophy (DMD), heart failure appears in later stage of the disease due to myocardial degeneration and respiratory insufficiency, and sometimes causes death. However, there have been no adequate parameters which can be used easily to evaluate the grade of heart failure in DMD, except cardiac enlargement and pulmonary congestion observed by chest X-ray picture. Thus, we measured the plasma concentrations of atrial natriuretic peptide (ANP) in the patients with muscular dystrophy of various types, and studied a relationship between plasma ANP concentration and heart failure, expecting that it could be an index of heart failure in DMD patients. The plasma ANP concentrations in patients with DMD were 35.5 +/- 3.3pg/ml (mean +/- SE) and higher than in normal subjects (19.3 +/- 1.0pg/ml). In the patients with limb-girdle muscular dystrophy, facioscapulohumeral muscular dystrophy and neurogenic muscular atrophy, the plasma ANP concentration showed a tendency to elevate. However, no elevation of plasma ANP levels was observed in the patients with other types of muscular dystrophy. In DMD, number of the patients having a high plasma ANP concentration was increased with progress of disability grade, and decrease in serum creatine kinase activity and serum myoglobin concentration. There was a significant correlation (p less than 0.01) between plasma ANP concentration and cardiothoracic ratio or PEP/LVET, but no correlation between the concentration and respiratory failure. Immunohistochemistry of the atrial cardiac muscle of an autopsied DMD case revealed many ANP-positive atrial muscle cells, indicating the preservation of ANP-secreting function.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Secretion and clinical significance of atrial natriuretic peptide in patients with muscular dystrophy]. 252 1

This report concerns two families in which the index patients are sporadic cases of a benign form of muscular dystrophy. In both families the sisters of the patients have married a close relative. The respective risks for a child of these consanguineous marriages being affected with either X linked Becker muscular dystrophy or autosomal recessive limb girdle muscular dystrophy is calculated using pedigree information, results of serum creatine kinase determinations, and also, in one family, results of DNA typing using RFLPs from the short arm of the X chromosome.
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PMID:Benign muscular dystrophy: risk calculation in families with consanguinity. 273 90

Manifesting carriers of Duchenne and Becker muscular dystrophy are uncommon but well described. Such patients are of particular importance with regard to the differential diagnosis from autosomal recessive limb-girdle muscular dystrophy. All mothers of affected males known to the Genetic Register of Muscular Dystrophy Families in Wales were contacted, and 167 out of a possible 190 were examined. It was estimated from pedigree and creatine kinase analysis that 119 out of the 167 were carriers of the Duchenne/Becker gene. Three manifesting carriers were identified, giving the proportion affected as 3/119 = 2.5%. We estimate the prevalence of manifesting carriers to be 1 in 100,000 of the female population, a figure comparable to the prevalence of autosomal recessive limb-girdle muscular dystrophy. During the period of the survey, several other women with similar clinical findings but without an appropriate family history were seen. We strongly suspect that some of these are also manifesting carriers of the Duchenne/Becker gene.
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PMID:A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales. 276 61

Lobulated fibers have been observed in biopsies of 13 patients with various neuromuscular disorders including limb-girdle muscular dystrophy (3), distal myopathy (2), scapuloperoneal muscular dystrophy (2), congenital myopathy, Kugelberg-Welander syndrome, hypothyroidism, steroid myopathy, osteomalacia and systemic lupus erythematosus (on steroids). In all cases there were fibers characterised by small subsarcolemmal triangular aggregates or more diffuse collections extending into the interior of the muscle fiber. These were strongly reactive with oxidative enzymes, acid phosphatase, periodic acid-Schiff (PAS), Verhoeff-van Gieson (VVG) and also stained red with the Gomori trichrome technique. In 5 cases core-like fibers were also seen. Morphometric analysis of the NADH-tetrazolium reductase (NADH-TR) preparations in 11 cases showed atrophy of the lobulated fibers. Ultrastructural studies of lobulated fibers disclosed large peripheral mitochondrial aggregates and focal areas with Z-line streaming and disrupted myofibrils. We consider this structural change of the muscle fiber as a reflection of muscle cell disruption and suggest that they may progress from lobulated fibers to more atrophic core-like fibers.
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PMID:Lobulated fibers in neuromuscular diseases. 316 2


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