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

A slowly progressive myopathy was discovered in a family in four successive generations. Eight patients (four female, four male) from three generations were examined and they showed muscle weakness affecting predominantly proximal, but also distal, muscles. Two patients had unequivocal findings in childhood, the others showed myopathy in their twenties or thirties. Working ability was lost in physically demanding jobs in the thirties, but activities of daily living were still preserved. Elbow contractures, tight heel cords and contractures of the interphalangeal joints were frequent. Serum CK activity was usually mildly elevated and electromyographic examinations revealed myopathic changes. Histopathological changes were compatible with moderately advanced muscular dystrophy in two patients, the six others had mild myopathic changes.
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PMID:Benign muscular dystrophy with autosomal dominant inheritance. 182 5

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

Duchenne's muscular dystrophy (DMD) is an X-linked progressive myopathy caused by a defect in the DMD gene locus. The gene corresponding to the DMD locus produces a 14-kilobase (kb) messenger RNA that codes for a large cytoskeletal membrane protein, dystrophin. DMD and Becker's muscular dystrophy are the consequences of dystrophin mutations. The exact biological function of dystrophin remains unknown but it has been demonstrated that it is localized to the cytoplasmic face of the cell membrane and has direct interaction with several other membrane proteins. We report here the synthesis of a 14-kb full-length complementary DNA for the mouse muscle dystrophin mRNA and the expression of this cDNA in COS cells. The recombinant dystrophin is indistinguishable from mouse muscle dystrophin by western blot analysis with anti-dystrophin antibodies and was shown by an immunofluorescent technique to be localized in the cell membrane. Our successful construction of a functional full-length cDNA opens opportunities for the study of structure and function of dystrophin and provides an opportunity to initiate gene therapy studies.
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PMID:Expression of recombinant dystrophin and its localization to the cell membrane. 182 97

Duchenne's muscular dystrophy (DMD), which affects one in 3,500 males, causes progressive myopathy of skeletal and cardiac muscles and premature death. One approach to treatment would be to introduce the normal dystrophin gene into diseased muscle cells. When pure plasmid DNA is injected into rodent skeletal or cardiac muscle, the cells express reporter genes. We now show that a 12-kilobase full-length human dystrophin complementary DNA gene and a 6.3-kilobase Becker-like gene can be expressed in cultured cells and in vivo. When the human dystrophin expression plasmids are injected intramuscularly into dystrophin-deficient mdx mice, the human dystrophin proteins are present in the cytoplasm and sarcolemma of approximately 1% of the myofibres. Myofibres expressing human dystrophin contain an increased proportion of peripheral nuclei. The results indicate that transfer of the dystrophin gene into the myofibres of DMD patients could be beneficial, but a larger number of genetically modified myofibres will be necessary for clinical efficacy.
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PMID:Human dystrophin expression in mdx mice after intramuscular injection of DNA constructs. 188 32

We describe five new cases of autosomal recessive distal dystrophy (Miyoshi myopathy) and emphasize the distinctive clinical and laboratory features of this unusual muscular dystrophy. Symptoms began at age 15 to 25, the gastrocnemius muscles were selectively involved, and creatine kinase was elevated more than 10 times normal. The EMG showed abundant brief motor units with numerous fibrillations. Dystrophic features without vacuoles were best seen in the biceps femoris muscle. Asymptomatic creatine kinase elevation was present years prior to the development of weakness. The disorder appears to be inherited in an autosomal recessive pattern. Miyoshi myopathy can be distinguished from other distal muscular dystrophies. We propose a new classification for the distal muscular dystrophies.
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PMID:Autosomal recessive distal dystrophy. 189 Oct 82

We report cystinuria and symptoms of cerebellar atrophy in a 45-year-old man. His parents were first cousins, and many members of his family had stones of urinary tract or gait impairment. Neurological examination disclosed cerebellar signs resembling those of spinocerebellar degeneration. Urinalysis disclosed high cystine, lysine, ornitine and arginine output. Cystine was 1153.8 micro mol/day (normal range, 22-170); lysine, 3443.9 (normal range, 44-1000); ornitine, 283.8 (normal range, 7-40); and arginine, 154.0 (normal range, 9-50). Neurological complications reported to be associated with cystinuria include mental retardation, muscular dystrophy, hypotonia and dwarfism, mongolism, paroxysmal dyskinesia, myopathy, migraine, spastic paraplegia, multiple sclerosis, subacute combined degeneration and cranial polyneuropathy. Cerebellar signs have been reported in only two cases, and to our knowledge, this is the first case of cystinuria with cerebellar atrophy ever reported. Some common metabolic errors may have caused both disorders, although they also may have developed independently.
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PMID:[Cystinuria with symptoms of cerebellar atrophy--a case report]. 189 74

We evaluated glutamine synthetase (GS) and alanine aminotransferase (GPT) activities in biopsied muscle from 40 cases of various neuromuscular diseases. GS and GPT catalyze the synthesis of glutamine and alanine, respectively, from amino acids derived in part from the breakdown of muscle proteins. The subjects were 7 cases of muscular dystrophy; 1 Duchenne type (DMD), 3 limb-girdle type, 2 facioscapulohumeral type (FSH), 1 Fukuyama type (FCMD); and 1 myotonic dystrophy (MyD); 5 mitochondrial myopathies; 11 inflammatory myopathies including 6 polymyositis and 3 myopathy associated with collagen disease; 5 endocrinological myopathies including 2 periodic paralysis; and, 11 cases of neurogenic amyotrophies [4 amyotrophic lateral sclerosis (ALS), 4 spinal progressive muscular atrophy (SPMA) and 3 other types]. Control subjects were 8 patients with thigh operations. Biopsied muscle was homogenized and assayed for GS activity by the method of Smith et al.; GPT was assayed by commercial kit. Protein was assayed by the method of Lowry et al. Enzyme activities between mean -2SD and mean +2SD of controls were considered to be the normal range. GS activity in control subjects was 28.22 +/- 7.13 (mean +/- SD) nmol glutamine formed/mg protein/hr. Fifteen of 40 cases showed increased enzyme activity, including DMD and FCMD, the acute phase of polymyositis, and periodic paralysis. GPT activity in controls was 16.56 +/- 4.05 IU/mg protein. Sixteen of 40 patients showed increased enzyme activity: FCMD, FSH, MyD, inflammatory and endocrinological myopathy, and ALS. On the other hand, mitochondrial myopathy showed significantly decreased activity.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Studies on enzyme activities relating to amino acid mobilization in biopsied muscles]. 198 Jun 44

The objective of this prospective study was to determine anal sphincter function and thickness of the anal musculature in patients with myotonic muscular dystrophy. Manometric studies were performed in 16 patients with myotonic dystrophy and in 16 healthy controls. Patients had significantly lower basal and squeeze pressures than control subjects (P less than 0.01). The results of ultrasonographic studies of the anal canal in 7 patients and 7 control subjects suggest that this decrease in muscle strength is partly explained by muscular atrophy. In addition, patients with myotonic dystrophy showed exaggerated rebound contractions following and sphincter relaxation that was induced by rectal distention. The pattern of this response and the results of electromyographic studies in 6 patients with myotonic dystrophy suggest that such abnormalities are explained by a neurogenic defect rather than a myotonic response of the anal musculature. It is concluded that patients with myotonic dystrophy show a multitude of defects in the anal sphincter that are an expression of myopathy, muscular atrophy, and neural abnormalities.
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PMID:The anal sphincter in patients with myotonic muscular dystrophy. 198 39

In progressive muscular dystrophy, the heart is always affected and presents characteristic histological lesions: irregular, diffuse and intense rearrangements predominantly in the left ventricle, the septum and conductive tissue, consisting of wide, poorly vascularized fibrous bands, that are destructive but without an inflammatory aspect. The remaining myocardium is dystrophic with degeneration of the fibers (hyalin, atrophic or hypertrophic) with irregular nuclei. Plaques of adipose tissue are found under the epicardium within the heart wall. Sometimes, a fibrous thickening of the intracoronary arteries is observed without modification of the intima, but vascular lesions are not systematically seen. In congenital muscular dystrophy, cardiomyopathy certainly exists, but there is no histological description. Half of the patients suffering from myopathy with intracytoplasmic inclusions also have dystrophic and fibrotic cardiac involvement. Congenital myopathies may have their own specific cardiomyopathy, as in central core myopathy, nemaline (rod) myopathy and especially myotubular myopathy, where involvement is common. Werdnig-Hoffmann disease types I and II do not affect the heart. In contrast, several cases of fibrotic lesions have been described in KugelbergWelander disease.
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PMID:[Pathological anatomy of the heart in myopathies and infantile muscular atrophies]. 204 76

Various types of the distal myopathy except Welander's late distal myopathy of Swedish type were described. There were many reports in the past concerning the varieties of the distal myopathy. Distal myopathy is a rather rare disorder and it may be difficult to diagnose these cases. Among these various distal myopathy, an emphasis was made upon the clinical and pathological characteristics of the diseases, particularly distal muscular dystrophy of Miyoshi, Distal myopathy with rimmed vacuole formation of Nonaka and ours, and Oculo-pharyngo-distal myopathy. All these diseases show the distal muscle involvement but the clinical features, heredity, course and pathological features are quite different, and prognosis is also different. Accordingly when we examined these distal myopathy cases, clinical characteristics and histo-pathological findings should be carefully studied. It should be also emphasized that the level of serum CPK dose not indicate the severity of the myopathy. In muscular dystrophy or myositis, serUm CPK elevates remarkably and we can consider the level of CPK as a sign of the severity or condition of the disease. However, in myopathy as "rimmed vacuole distal myopathy" serum CPK remains in normal level even though weakness is severe. This is due to absence of the membrane abnormalities of muscle cells. Leakage of the CPK from muscle cells, therefore, does not reflect the degree of the cell destruction. In this point we have to remember the fact that serum CPK is not a indicator of all muscle diseases and even if the CPK is normal, we have to consider the presence of myopathy.
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PMID:Distal myopathy. 208 93


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