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Publication
Journal: Nippon rinsho. Japanese journal of clinical medicine
March/9/1978
Publication
Journal: Der Nervenarzt
September/26/2005
Abstract
Traditionally, muscular dystrophies (MDs) are progressive, hereditary, and primarily degenerative myopathies. Nowadays, due to molecular biology, MDs are looked upon as clinically and genetically heterogeneous myopathies characterized by protein defects of muscle tissue resulting most often in muscle weakness. They are caused by gene mutations leading to a decrease of structural proteins or enzymes. The site of the primary defect and the protein function are different. The disorders are defined according to the underlying protein defect (dystrophinopathy, calpainopathy, and others). The gene or gene product are not yet known in all forms of MD (for example, facioscapulohumeral muscular dystrophy). Therefore, the nomenclature based on the protein defects and the term MD are used concurrently. Clinical symptoms, pathogenesis, diagnosis, therapy, prognosis, and possible prevention of the more frequent MDs are discussed: dystrophinopathies (Duchenne, Becker type), Emery-Dreifuss syndrome (3 forms), facioscapulohumeral MD, limb-girdle MD (17 forms), myotonic dystrophies (2 forms), and congenital MD (11 forms). This article highlights the significance of molecular analyses and the possible multisystemic symptoms in these myopathies.
Publication
Journal: Current Opinion in Neurology
February/3/1997
Abstract
Facioscapulohumeral dystrophy is an autosomal dominant muscular dystrophy, the gene for which is localized to 4q35. It appears to be caused by deletion of tandem repeats that do not contain an expressed sequence. One current hypothesis is that the deletion affects expression of a centromeric gene (not yet identified) through a position effect. The mouse mutant, myodystrophy (myd), is a candidate model for facioscapulohumeral dystrophy. Myd has a progressive muscular dystrophy and maps to a segment of mouse chromosome 8 that is syntenic with human 4q31-4q35.
Publication
Journal: Current Opinion in Neurology
November/5/2002
Abstract
OBJECTIVE
Muscular dystrophy includes many genetically distinct disorders. The list of causative genes for muscular dystrophy has been expanding rapidly, including those for congenital muscular dystrophies.
RESULTS
We review the newly identified causative genes and suggested molecular mechanisms, focusing on glycosylation abnormality of alpha-dystroglycan, collagen VI deficiency, four allelic diseases of caveolin-3 gene, and titin gene mutations.
CONCLUSIONS
Several possible mechanisms causing muscular dystrophy were discussed. Defects in extracellular molecules have more significant effects resulting mainly in congenital muscular dystrophy, while intracellular molecular defects show milder effect on the phenotype. These hypotheses may provide a new paradigm in understanding the pathomechanism of muscular dystrophies.
Publication
Journal: Neuropathology
February/21/2001
Abstract
Muscular dystrophy is a group of genetically determined muscular disorders marked by progressive wasting and weakness of the skeletal muscle, but which often affect cardiac and smooth muscles or other tissues. The patterns of inheritance are either dominant or recessive although the gene may be defective because of a new mutation. Growing evidence revealed the marked heterogeneity of the muscle disorders, and considerable numbers of Japanese scientists and physicians have contributed to the research progress in muscular dystrophy. Among these the discovery of an increased serum creatine kinase activity in muscular dystrophy opened the way for the most reliable laboratory test for muscular dystrophy in 1959, and subsequently accelerated progress in a broad range of research areas in medicine. Progress in modern genetics and molecular pathology provided another breakthrough in muscular dystrophy research and, in 1987, dystrophin was identified, a deficiency of which causes DMD. The present review article highlights contributions of Japanese scientists to muscular dystrophy research.
Authors
Publication
Journal: Clinics in Chest Medicine
May/20/2018
Abstract
Muscular dystrophies represent a complex, varied, and important subset of neuromuscular disorders likely to require the care of a pulmonologist. The spectrum of conditions encapsulated by this subset ranges from severe and fatal congenital muscular dystrophies with onset in infancy to mild forms of limb and girdle weakness with onset in adulthood and minimal respiratory compromise. The list and classification of muscular dystrophies are undergoing near-constant revision, based largely on new insights from genetics and molecular medicine. The authors present an overview of the muscular dystrophies, including their basic features, common clinical phenotypes, and important facets of management.
Publication
Journal: Der Pathologe
November/29/2009
Abstract
The diagnosis "muscular dystrophy" without analysis of the underlying gene defect is nowadays obsolete. With the discovery and cloning of cytoskeleton proteins and intermediate filaments in the muscle fiber membrane, the sarcoplasm and the nucleus which are essential for the normal muscle fiber function, the classification of muscular dystrophies has dramatically improved. Muscular dystrophies are a group of clinically and genetically heterogeneous disorders. By means of immunohistochemistry and molecular genetics more than 40 different disease forms can be distinguished, which are characterised by distinct protein defects or defined gene loci and can be related to typical phenotypes. It is noteworthy that muscular dystrophies may be associated with cardiomyopathy with increased risk of sudden cardiac death. Thus, diagnosis and treatment require experienced investigators and clinicians and regular cardiologic follow-ups, preferably in a specialised muscle center.
Publication
Journal: Nurse practitioner forum
March/12/1997
Abstract
Muscular dystrophy can be a devastating diagnosis for children and their families. Understanding the potential course, prognosis, and genetic implications for the child and his/her family is dependent on the diagnosis of the specific type of dystrophy. This article suggests a sequential evaluation of children with possible muscular dystrophy and reviews the more common types.
Authors
Publication
Journal: In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing
November/19/2020
Abstract
General Information The term "muscular dystrophy" incorporates an assortment of hereditary disorders that lead to progressive, generalized disease of the muscle prompted by inadequate or missing glycoproteins in the muscle cell plasma membrane. Muscular dystrophy is a non-communicable disorder with abundant variations. Each has its pattern of inheritance, onset period, and the rate at which muscle is lost. Alterations in specific genes cause different representations of this disease. Anatomy Research has established that the gracilis, semimembranosus, semitendinosus, and sartorius muscles can be affected in patients with muscular dystrophy. Feet can exhibit an equinovarus deformity. The pelvis can tilt. There may be contractures throughout the body. Spinal deformities may produce lordosis or scoliosis. The eye can exhibit cataracts and bilateral ptosis. Natural History Onset usually occurs in the third to fourth decades. But, it may reveal in infancy or undergo accelerated deterioration near the age of onset. Parents of affected individuals may present concern that their child is not walking as well as other children their age. The child may have trouble kicking a ball due to weakness. Pseudo-drop events caused by weakness of quadriceps muscle may also be present. Both parents could be healthy. On physical examination, the affected individual will have massive calf muscles plus lower limb proximal muscle weakness. This condition will make affected individuals want to utilize their arms and hands to aid in rising from a seated position. Other complaints can involve a history of delayed ambulation, toe walking, calf hypertrophy, and proximal hip girdle muscle instability. Presentations may also incorporate asymptomatic elevation of serum creatine kinase (CK), exertion intolerance, dilated cardiomyopathy, malignant hyperthermia, quadriceps myopathy, language delay, and Turner syndrome (Duchenne in X chromosome monozygotic females). For some with subclinical muscular dystrophy, the diagnosis is initially suspected by family history or the appearance of raised liver enzymes, the basis for which is unclear. These enzymes may include alanine aminotransferase and aspartate aminotransferase. Since the inheritance of muscular dystrophy can be X-linked, the overwhelming majority of patients are male. Symptomatic disease in daughters is explainable by Turner syndrome, skewed X chromosome inactivation, translocation of the mutated gene to an autosome, or uniparental disomy (both copies of a chromosome set originated of one parent). Usually, symptomatic females present in infancy with proximal muscle weakness. Reports exist of increased weakness in adulthood, myalgias, spasms, and lethargy as initial manifestations. Scoliosis and sustained alveolar hypoventilation can cause severe problems for every child with muscular dystrophy. Patterns of Spread Muscular dystrophy can be caused by mutations in numerous genes and can be transferred in an X-linked, autosomal dominant, or autosomal recessive fashion. Changes in the X-linked gene DMD, which encodes dystrophin, is the most frequent cause of muscular dystrophy. This why the phenotype is manifested in hemizygous males because they have only a single copy of the X chromosome. One should note that mutations in dystrophin also create allelic heterogeneity. Mutations in the DMD gene, for example, may cause muscular dystrophy of both Duchenne or the less serious Becker, based on the extent of the lack of protein. Although the phenotypic characteristics of some of these disorders are definite, the phenotypic spectrum produced by mutations in various genes overlaps, whereby spanning to nonallelic heterogeneity. Identification of nonallelic heterogeneity is critical for specific reasons: (1) the capacity to recognize disease loci in linkage studies is decreased by introducing subjects with associated phenotypes, but separate genetic disorders; (2) genetic testing is further complicated because several distinct genes need to be analyzed along with the likelihood of distinctive mutations in all of the candidate genes; and (3) data is concerned about how genes or proteins associate, therefore providing novel insights inside cell molecular physiology. Phenocopies are thus produced, which are incidents in which nongenetic diseases simulate a genetic disorder. For instance, features of virus or toxin-induced neurologic symptoms can mirror those seen in muscular dystrophy. As in nonallelic heterogeneity, phenocopies continue to confound linkage studies and genetic testing. Patient history and accurate differentiation in phenotype can usually render signs that differentiate these maladies from similar genetic diseases. It is important to note that muscular dystrophy has variable expressivity and incomplete penetrance and, therefore, may be combined over a phenotypic spectrum in various affected individuals, further demonstrating the aspect of variable expressivity.
Publication
Journal: Indian Journal of Pediatrics
April/18/2001
Abstract
The muscular dystrophies (MD) are a heterogenous group of genetically determined, variably inherited primary disorders of muscle that progress differently. The various forms can be distinguished by the combination of clinical, genetic and pathologic criteria, confirmation of the muscle biopsy should be with immunohistochemical staining rather than histological only. These and the gene deletion studies in the families have become essential diagnostic criteria.
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Publication
Journal: Nippon rinsho. Japanese journal of clinical medicine
May/11/2005
Abstract
The muscular dystrophies are a genetically heterogeneous group of progressive disorders that lead to the breakdown of the integrity of skeletal muscle. Numerous recent advances made in research into the molecular genetics of muscular dystrophy have highlighted the diversity of this family of disorders. Muscle biopsy allows the immunohistochemical analysis of various muscle specific proteins, and can provide important data enabling definitive diagnosis. Muscle biopsy is not always necessary, such as in the case of Duchenne or Fukuyama type dystrophies, which are relatively easy to diagnose by genetic testing; in such cases, however, consideration must given to the ethical implications of testing. The future promises the development of new therapeutic approaches and clinical applications based on genetic diagnostic data.
Publication
Journal: The Lancet
December/2/2019
Abstract
Muscular dystrophies are primary diseases of muscle due to mutations in more than 40 genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes responsible for these conditions have been identified, it is possible to accurately diagnose them and implement subtype-specific anticipatory care, as complications such as cardiac and respiratory muscle involvement vary greatly. This development and advances in the field of supportive medicine have changed the standard of care, with an overall improvement in the clinical course, survival, and quality of life of affected individuals. The improved understanding of the pathogenesis of these diseases is being used for the development of novel therapies. In the most common form, Duchenne muscular dystrophy, a few personalised therapies have recently achieved conditional approval and many more are at advanced stages of clinical development. In this Seminar, we concentrate on clinical manifestations, molecular pathogenesis, diagnostic strategy, and therapeutic developments for this group of conditions.
Publication
Journal: Indian Journal of Pediatrics
May/31/2004
Abstract
Muscular dystrophies are a heterogeneous group of inherited disorders characterized by progressive muscle wasting and weakness. Majority of genes and their protein products responsible for the dystrophies have been identified in recent years. Using molecular studies, now it is possible to establish a precise diagnosis, provide prognosis, detect preclinical cases, identify carriers, and offer prenatal diagnostic testing. Molecular genetic approaches also seem to offer the best prospect for developing effective treatments in the future.
Publication
Journal: The Lancet
June/30/2013
Abstract
Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy. An improved understanding of their molecular bases has led to more accurate definitions of the clinical features associated with known subtypes. Knowledge of disease-specific complications, implementation of anticipatory care, and medical advances have changed the standard of care, with an overall improvement in the clinical course, survival, and quality of life of affected people. A better understanding of the mechanisms underlying the molecular pathogenesis of several disorders and the availability of preclinical models are leading to several new experimental approaches, some of which are already in clinical trials. In this Seminar, we provide a comprehensive review that integrates clinical manifestations, molecular pathogenesis, diagnostic strategy, and therapeutic developments.
Publication
Journal: Indian Journal of Pediatrics
December/12/1990
Authors
Publication
Journal: Deutsche Medizinische Wochenschrift
September/24/1978
Publication
Journal: Canadian Nurse
October/31/1998
Publication
Journal: Proceedings, the annual meeting of the Medical Section of the American Council of Life Insurance
November/28/1979
Authors
Publication
Journal: Seminar international
October/31/1998
Authors
Publication
Journal: Tijdschrift voor ziekenverpleging
March/20/1973
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