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

A case is described of mild haemolytic anaemia in a female homozygous for pyruvate kinase deficiency, with 20% of normal enzyme activity and with the unexplained associations that she suffers from angina pectoris and that three of her children died in childhood from a muscular dystrophy presumed to be Werdnig-Hoffman disease.
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PMID:A kindred with red cell pyruvate kinase deficiency. 88 38

Measurements of electrophoretic mobility of erythrocytes under the influence of ouabain were carried out on seven patients suffering from progressive Duchenne's muscular dystrophy. While ouabain-treated erythrocytes of healthy controls showed a significant decrease (alpha = 0.001) in electrophoretic mobility, an increase was found in five of the patients, and two patients revealed a slight drop in electrophoretic mobility. A significant difference (alpha = 0.001) was obtained in comparing the control group of patients. Initial trial measurements suggested that such a difference is also true for some other forms of muscular dystrophy and Werdnig-Hoffmann's spinal muscular atrophy.
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PMID:[Influence of ouabain on the electrophoretic mobility of erythrocytes in 7 patients with Duchenne's muscular dystrophy]. 97 75

The childhood form of the spinal muscular atrophy (SMA) is classically subdivided into three groups on the basis of a combination of age of onset, milestones of development and age of survival: acute Werdning-Hoffmann (type I), intermediate Werdnig-Hoffmann (type II) and Kugelberg-Welander disease (type III). Now we examined 7 cases of type I and 9 cases of type II on clinical and histochemical ground. Of the total of 16 cases, 5 cases had a family history of the disease. (1) In type I, three were males and 4 females. The onset was within 30 days and the disease was manifest before or at delivery in 3 cases. The progression was so severe. All cases were dead by 10 months. They showed generalized hypotonia, abnormal respiration and could not sit without support. In type II, five were males and 4 females. The onset of the disease was between the age of 3 and 15 months. The progression was slow. All patients couldn't walk by themselves at all but 7 of them had abilities to sit without support. Clinically it was easy to classify type I from type II. (2) The most characteristic histochemical findings of both types were group atrophy, fiber hypertrophy, fiber type predominance and fibrosis. Though there was a slight difference between two types in histological pattern, the basis was so similar. There is controversy about the proper classification of recessive childhood SMA. Now it is suggested that the majority of both acute and chronic cases are allelic, similar to the patterns of Duchenne and Becker forms of muscular dystrophy.
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PMID:[Clinical and histochemical findings in spinal muscular atrophy]. 138 61

A survey of the world literature, involving over 150 reported studies, of the population frequencies of various inherited neuromuscular diseases has been carried out. Data are presented for the commoner forms of muscular dystrophy (Duchenne, Becker, facioscapulohumeral, limb girdle), myotonic dystrophy and congenital myotonias, proximal spinal muscular atrophies, and the hereditary motor and sensory neuropathies. A conservative estimate of the overall prevalence among both sexes is around 286 x 10(-6), that is 1 in 3500 of the population may be expected to have a disabling inherited neuromuscular disease presenting in childhood or in later life. If severe disorders manifest only in infancy and early childhood (e.g. Werdnig-Hoffmann disease and severe congenital muscular dystrophy) and the rare forms of dystrophy and myopathy are also included, then the overall prevalence could well exceed 1 in 3000.
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PMID:Population frequencies of inherited neuromuscular diseases--a world survey. 182 74

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

We studied the histochemical staining and biochemical activity of AMP deaminase in biopsied muscle in Becker-type muscular dystrophy (BMD), Fukuyama-type congenital muscular dystrophy (FCMD), Duchenne-type muscular dystrophy (DMD), Werdnig-Hoffmann disease (WH) in order to elucidate the change of AMP deaminase activity in muscle with neuromuscular disorders in childhood. The intensity of AMP deaminase staining did not decrease in BMD with mild pathologic change, but in DMD, FCMD and WH it decreased in parallel with the severity of the pathologic change. The biochemical activity of AMP deaminase did not decrease in muscle with mild pathologic change in patients with DMD and tended to decrease according to the progress of the disease. The activity of AMP deaminase in muscle of patients with FCMD and WH which showed severe pathologic change was remarkably low. It was demonstrated that the decrease in the activity of AMP deaminase was related to the intensity of pathologic change rather than diagnosis of a neuromuscular disorder.
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PMID:AMP deaminase activity of skeletal muscle in neuromuscular disorders in childhood. Histochemical and biochemical studies. 380 28

It has been well documented that children with severe neuromuscular disorders have tall vertebrae, presumably a consequence of altered mechanical forces. This finding was present in four neonates who were born with severe "floppy" hypotonia due to Werdnig-Hoffmann disease (two cases), nonspecific neonatal myopathy, and congenital muscular dystrophy. Fetal vertebral development is normally modified by intrauterine muscle tension and fetal activity.
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PMID:Tall vertebrae at birth: a radiographic finding in flaccid infants. 387 40

The time courses of changes in amplitudes of muscle action potentials (MAPs) obtained from gastrocnemius and soleus muscles by 5 Hz prolonged tibial nerve stimulation were studied. Subjects included muscular dystrophy (MD), spinal muscular atrophy, Issacs syndrome, idiopathic muscle spasms, psychiatric disorders such as autism and schizophrenia, and normal controls. In normal subjects, MAPs obtained at 5 minutes from gastrocnemius muscles was 87-102% of those at initiation of the stimulation. In soleus muscles, MAPs at 5 minutes was 95-105% of those at the beginning. In gastrocnemius muscles, MAPs increased in disorders such as Duchenne MD, Fukuyama type congenital MD, facioscapulohumeral MD, myotonic dystrophy, dermatomyositis, Kugelberg-Welander syndrome, viral myelitis, malignant hyperpyrexia, autism and schizophrenia. In soleus muscles, the increase of MAPs was demonstrated in Duchenne MD, Fukuyama type congenital MD, myotonic dystrophy and autism. MAPs remained within normal range in infants with Werdnig-Hoffman disease, Issacs syndrome and idiopathic muscle spasms. In two cases with Duchenne MD, MAPs obtained from gastrocnemius muscles reduced in amplitudes by the administration of dantrolen sodium. While the pathogenesis of the increased MAPs is not clear, several possible factors are discussed. It is considered that this 5 Hz examination may provide an important information for detecting the effect of dantrolen sodium on Duchenne MD, and it is also suggested that the examination will be a useful test for finding latent malignant hyperpyrexia.
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PMID:Increased muscle action potentials by 5 Hz prolonged nerve stimulation in neurological and neuromuscular disorders--clinical usefulness for detecting underlying pathophysiology. 648 78

The authors state that a marked hypotonia of the lower extremity muscles in children with progressive muscular dystrophy may lead to the development of secondary dislocations and semi-dislocations of the femur, which were detected in 18 of the 32 patients examined. Most of the patients had Werdnig-Hoffmann's spinal amyotrophy which was related to an especially gross muscular hypotonia.
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PMID:[Secondary changes in the hip joints of children with progressive muscular dystrophy]. 652 78

On the basis of the clinical material of the Department of Neurology, Medical Academy in Warsaw the author discusses the bioelectric characteristics of infantile and juvenile spinal muscular atrophy. Attention is called to the specific character of resting firing units in infantile type. On the background of a neurogenic damage pattern the so called "spinal" features of the electromyogram are much more pronounced in the juvenile form of the disease. Motor fibre velocity in small children in the so called group I achieves normal values for a given age later than in healthy children, in long-standing cases of the juvenile form the minimal velocity may be decreased or the conduction velocity may be uniform at the level of the normal maximal velocity. The value of electromyography in the separation of Werdnig-Hoffmann disease from the group of the so called floppy children, and in the differential diagnosis between juvenile spinal muscular atrophy (mainly Kugelberg-Welander disease) and muscular dystrophy is emphasized.
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PMID:[Bioelectric characteristics of spinal muscular atrophy]. 663 94


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