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

The report contains data of a clinico-genealogical analysis of 450 observations of hereditary diseases of the nervous system, and the prevalence rates of neurohereditary diseases in the Kuibyshev region. The authors stress the significance of the founder effect as a factor lying at the basis of a concentration of autosome-dominant forms in some of the areas of the region. The role of increased inbreeding in the enlargement of the amount of autosome-recessive forms is being confirmed. The results of the study denote that in the population of the studied region the group of nervous-muscular hereditary diseases is most frequent. The main neurohereditary diseases are being clinically defined with an indication of the type of hereditary transmission. The authors underline the significant clinical intra- and inter-familial polymorphism of such diseases as the Charcot-Marie-Tooth neuronal amyotrophy, scapulohumeral-facial myopathy of Landusi-Dejenrinne, primary pelvic-humeral progressive muscular dystrophy, autosoma-dominant myatrophic ataxia, myotonic dystrophy. The authors indicate the necessity of a screening of patients with hereditary diseases of the nervous system.
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PMID:[Clinico-genalogic characteristics of hereditary diseases of the nervous system in the Kuibyshev region]. 15 55

This study presents the findings from a neuroradiological investigation of the cervical spinal canal in a number of diseases of the nervous system. It concerns the measurement of the sagittal and transversal diameters of the spinal canal at levels C3 through C6. The material for this investigation was made up of two main groups: A) 400 controls and B) 110 patients. The second group consisted of the following: 1) 20 patients suffering from Friedreich's Ataxia, 2) 14 patients with Steinert's disease, 3) 44 patients with lateral amyotrophic sclerosis, 4) 14 patients suffering from Charcot-Marie-Tooth's disease, and 5) 18 patients with muscular dystrophy. The results are as follow: 1) In patients with Friedreich's Ataxia both the sagittal and transversal diameters are smaller than those of the controls. 2) On the contrary, in Charcot-Marie-Tooth's disease the sagittal diameter is larger than the controls. 3) The transversal diameter in patients with muscular dystrophy is smaller than the controls and 4) the sagittal diameter of the vertebral canal decreases from the top (C3) downwards (C6) while the transversal diameter increases.
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PMID:[Radiological study of the cervical spinal column in some neurological degenerative diseases (author's transl)]. 85 12

Pneumoencephalography was carried out in 23 patients with various muscular disorders, i.e. spinal neurogenic atrophy, classified as Wohlfart-Kugelberg-Welander's and Charcot-Marie-Tooth's diseases, and muscular dystrophy. EEG-registrations and psychological testing were carried out. Pneumoencephalography revealed ventricular enlargement and cortical changes in 17 out of 23 cases. Changes were found in all three groups studied; cortical changes were, however, only found in the neurogenic atrophy groups. Cases where there clearly might be exogenous causes for ventricular dilatation were excluded. The changes found, therefore, supposedly form an integral part of the disease process. It should be emphasized that the precaution does not entirely exclude a traumatic etiology in some cases. EEG-registrations (pathological in three out of 20 cases) as well as psychological evaluation (pathological in six out of 14 cases) supported the assumption of organic brain changes. Pneumoencephalography, however, seemed to be the most sensitive parameter for unveiling brain involvement in these disorders.
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PMID:Pneumoencephalographic findings in various primary and secondary muscular disorders. 126 63

Calcium uptake on muscle microsomal fraction has been investigated in connection with bioelectrical activity in some muscle diseases. The findings showed a significant increase of calcium uptake in denervated muscle, which exhibited spontaneous bioelectrical activity (fibrillations). In myotonias, a low calcium uptake was peculiar to Steinert's disease but not to myotonia congenita. In other muscle diseases, such as progressive muscular dystrophy (Duchenne's type) or Charcot-Marie-Tooth's disease, the ability of muscle microsomal fraction to bind calcium was not changed. Starting with the key role of calcium in excitation-contraction coupling, the implications of calcium uptake disturbances in muscle electrogenesis are discussed.
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PMID:Calcium uptake and bioelectrical activity of denervated and myotonic muscle. 543 20

For many neuromuscular disorders, the chromosomal location is known, the causal gene has been identified, and direct application of this knowledge may be made in a clinical setting. The benefits resulting from molecular-based methods include improved diagnostic accuracy and genetic counseling for patients and other at risk family members. This chapter discusses in detail four of the most frequently encountered neuromuscular disorders. These diseases include spinal muscular atrophy, Charcot-Marie-Tooth neuropathy, Duchenne/Becker type muscular dystrophy, and myotonic dystrophy.
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PMID:Molecular basis of neuromuscular diseases. 989 34

Our understanding of the neuromuscular disorders of childhood has been rapidly expanding. This is mostly because of the discovery of the underlying genetic loci for the vast majority of these diseases and the abnormal proteins produced caused by these mutations. Spinal muscular atrophy is the second most frequent autosomal recessive disease of childhood and the most fatal. It has been mapped to chromosome 5q11.2-13.3, an area with three distinct genes associated with spinal muscular atrophy. Charcot-Marie-Tooth is the most common inherited peripheral neuropathy. Three genes encoding for myelin proteins and one for a nuclear protein have been associated with this group of disorders. Finally, since dystrophin was cloned in 1986, many proteins assisting dystrophin in anchoring the muscle cytoskeleton to the extracellular matrix have been discovered. Mutations in these genes lead to various forms of muscular dystrophy.
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PMID:Genetics of pediatric neuromuscular disease. 1110 73

Charcot-Marie-Tooth disease constitutes a genetically heterogeneous group of hereditary motor and sensory peripheral neuropathies. The axonal type of Charcot-Marie-Tooth is designated type 2. Six loci for autosomal dominant and three for recessive Charcot-Marie-Tooth type 2 have been reported so far. In this study we report the phenotype of autosomal recessive axonal Charcot-Marie-Tooth type 2 due to a recently-described mutation (c.892C>T-p.R298C) in a gene encoding Lamin A/C nuclear envelope proteins and the first gene in which a mutation leads to autosomal recessive Charcot-Marie-Tooth type 2. We have explored eight patients from four Algerian families. The onset is usually in the second decade and the course is rapid, involving upper limbs and proximal muscles, leading to a severe condition in less than 4 years. Many different mutations in Lamin A/C have been identified as causing variable phenotypes, such as limb girdle muscular dystrophy type 1B, autosomal dominant and recessive Emery-Dreyfuss muscular dystrophy, dilated cardiomyopathy with atrioventricular conduction defect, and Dunnigan-type familial partial lipodystrophy should prompt us to fully investigate the skeletal and cardiac muscles in patients affected with autosomal recessive Charcot-Marie-Tooth type 2 carrying a mutation in LMNA.
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PMID:The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene. 1246 34

This review focuses on the influence of laminins, mediated through laminin receptors present on Schwann cells, on peripheral nerve development and pathology. Laminins influence multiple aspects of cell differentiation and tissue morphogenesis, including cell survival, proliferation, cytoskeletal rearrangements, and polarity. Peripheral nerves are no exception, as shown by the discovery that defective laminin signals contribute to the pathogenesis of diverse neuropathies such as merosin-deficient congenital muscular dystrophy and Charcot-Marie-Tooth 4F, neurofibromatosis, and leprosy. In the last 5 years, advanced molecular and cell biological techniques and conditional mutagenesis in mice began revealing the role of different laminins and receptors in developing nerves. In this way, we are starting to explain morphological and pathological observations beginning at the start of the last century. Here, we review these recent advances and show how the roles of laminins and their receptors are surprisingly varied in both time and place.
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PMID:Laminins and their receptors in Schwann cells and hereditary neuropathies. 1595 25

Charcot-Marie-Tooth disease, the most common hereditary motor and sensory neuropathy, is a slowly progressive disorder characterized by diffuse muscle weakness and prominent distal atrophy that predominantly involves the intrinsic muscles of the feet and the peroneal muscles. It results in marked reduction in functional aerobic capacity during exercise and fatigue is commonly reported. To date, no pharmacologic treatment has been shown to be effective for treating fatigue in Charcot-Marie-Tooth. Modafinil is used to treat the symptoms of fatigue and excessive daytime sleepiness in narcolepsy. However, fatigue and subsequent excessive daytime sleepiness secondary to fatigue are common symptoms in many neurologic disorders. Prior reports on patients with myotonic muscular dystrophy, multiple sclerosis, Parkinson's disease, and amyotrophic lateral sclerosis, have shown beneficial effects of modafinil in treating fatigue. We report 4 patients with genetically confirmed Charcot-Marie-Tooth disease who had significant fatigue that was almost completely relieved by modafinil.
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PMID:Modafinil reduces fatigue in Charcot-Marie-Tooth disease type 1A: a case series. 1706 Mar 10

Many of the neuromuscular (e.g., muscular dystrophy) and neurometabolic (e.g., mitochondrial cytopathies) disorders share similar final common pathways of cellular dysfunction that may be favorably influenced by creatine monohydrate (CrM) supplementation. Studies using the mdx model of Duchenne muscular dystrophy have found evidence of enhanced mitochondrial function, reduced intra-cellular calcium and improved performance with CrM supplementation. Clinical trials in patients with Duchenne and Becker's muscular dystrophy have shown improved function, fat-free mass, and some evidence of improved bone health with CrM supplementation. In contrast, the improvements in function in myotonic dystrophy and inherited neuropathies (e.g., Charcot-Marie-Tooth) have not been significant. Some studies in patients with mitochondrial cytopathies have shown improved muscle endurance and body composition, yet other studies did not find significant improvements in patients with mitochondrial cytopathy. Lower-dose CrM supplementation in patients with McArdle's disease (myophosphorylase deficiency) improved exercise capacity, yet higher doses actually showed some indication of worsened function. Based upon known cellular pathologies, there are potential benefits from CrM supplementation in patients with steroid myopathy, inflammatory myopathy, myoadenylate deaminase deficiency, and fatty acid oxidation defects. Larger randomized control trials (RCT) using homogeneous patient groups and objective and clinically relevant outcome variables are needed to determine whether creatine supplementation will be of therapeutic benefit to patients with neuromuscular or neurometabolic disorders. Given the relatively low prevalence of some of the neuromuscular and neurometabolic disorders, it will be necessary to use surrogate markers of potential clinical efficacy including markers of oxidative stress, cellular energy charge, and gene expression patterns.
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PMID:Clinical use of creatine in neuromuscular and neurometabolic disorders. 1865 78


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