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

In this paper eight patients with myogenic or neurogenic muscle disorders are presented, in whom cardiomiopathy was also found. Six patients developed a dilated cardiomiopathy associated with neurogenic atrophies or progressive muscular dystrophy. In patients with Mb. Friedreich and HSNM type II together with the total dilatation of the septum hypertrophy was observed and in patients with spinal muscular amyotrophy of scapuloperoneal type atriomyopathy dominated. In two patients with mitochondrial disorders a hypertrophic cardiomyopathy was found. One of them had mitochondrial encephalomyoneuropathy and the other mitochondrial encephalopathy with myoclonic epilepsy. In none of them a restrictive cardiomyopathy was found. From the presentation could be concluded that in neurogenic muscle diseases and progressive muscular dystrophy respectively most frequently dilated cardiomyopathies have been developed. Hypertrophic cardiomyopathies are usually found in children with mitochondrial disorders.
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PMID:Cardiomyopathies in children with neuromuscular disorders. 175 40

Muscle biopsies from 10 Japanese patients (9 females and 1 male) with congenital muscular dystrophy (CMD) were studied. Their clinical features varied remarkably in severity; one patient died at 6 years of age. Family history was negative in all but one patient who had an affected sibling. Muscle biopsy findings varied from mild myopathic to advanced dystrophic changes. Hypertrophic fibers associated with occasional fiber splitting were assumed to reflect a chronic dystrophic process. Histochemical examination revealed type 1 fiber predominance in 5 patients, and type 2 fiber predominance in one. Eight patients had a slight to moderate increase in the number of undifferentiated type 2C fibers suggesting a regenerating process after fiber necrosis. Type 2B fibers were fairly well preserved in 8 patients. The overall findings differed from those of the Fukuyama type congenital muscular dystrophy (FCMD) and Duchenne muscular dystrophy (DMD) in which more active fiber necrosis and regeneration are seen. We conclude that the present CMD patients suffered from a chronic dystrophic process similar to that in limb-girdle muscular dystrophy.
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PMID:Congenital muscular dystrophy. A histochemical study with morphometric analysis on biopsied muscles. 405 19

Dystrophin deficiency causes Duchenne muscular dystrophy (DMD). Hypertrophic feline muscular dystrophy (HFMD) is a homologous animal model of DMD. Our objective was to investigate the early changes caused by dystrophin deficiency in skeletal muscle of cats of 3-4 and 6-9 months. Obvious histological lesions were already present in the younger cats, and they increased in magnitude over time. They consisted of multifocal areas of degeneration and regeneration with mononuclear infiltration, and a wide variation in myofiber diameter, as evidenced by significantly increased variability coefficients in muscle fiber size, myofiber splitting, central nuclei, and hypercontracted myofibers. Widespread multifocal mineralizations were frequently observed. Endomysial and perimysial fibrosis was not a feature observed in axial or appendicular muscles, but was present in the diaphragm of two cats at necropsy. There was a significant decrease in the number of type 2A myofibers in dystrophin-deficient cats at both ages. Sarcolemmal dystrophin was mostly absent in all dystrophin-deficient cats; however, a small percentage of fibers stained positive, accounting for a faint residual band in the immunoblot. Carrier females had a mosaic staining pattern with irregular staining in most fibers, or even absent staining in rare fibers. However, no histological lesions were seen. Taken together, these data provide significant baseline information for further studies on the early changes associated with dystrophin deficiency in cats, or use of young dystrophin-deficient cats in therapeutic trials.
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PMID:Changes of skeletal muscle in young dystrophin-deficient cats: a morphological and morphometric study. 1151 88

Hypertrophic muscular dystrophy was diagnosed in a 10-month-old male Rat Terrier with hypersalivation, dysphagia, gait abnormalities, and generalized weakness. Serum creatine kinase activity was high, and electromyography revealed myotonic discharges. Histologic examination of a muscle biopsy specimen revealed muscle fiber degeneration, clusters of basophilic regenerating fibers, and endomysial fibrosis. Staining for dystrophin, a sarcolemmal protein, was decreased, compared with that in muscle specimens from clinically normal dogs. Treatment with mexiletene hydrochloride and procainamide hydrochloride resulted in temporary improvement in clinical signs, but the disease became refractory to treatment, and the dog was euthanatized. Clinical and histologic characteristics of this dystrophin deficiency-related muscular dystrophy were similar to those of X-linked muscular dystrophy in dogs, hypertrophic muscular dystrophy in cats, and Duchenne muscular dystrophy in humans.
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PMID:Hypertrophic muscular dystrophy in a young dog. 2257 Sep