Information on Muscular Dystrophy from the National Institute of Neurological Disorders and Stroke.
The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. Read more at the National Institute of Neurological Disorders and Stroke.
Information on Muscular Dystrophy from the National Institutes of Health.
Muscular dystrophy is a group of disorders that involve muscle weakness and loss of muscle tissue that get worse over time. Symptoms vary with the different types of muscular dystrophy.
All of the muscles may be affected. Or, only specific groups of muscles may be affected, such as those around the pelvis, shoulder, or face. The severity of disability depends on the type of muscular dystrophy. All types of muscular dystrophy slowly get worse, but how fast this happens varies widely. Read more at the National Institutes of Health.
Information on Muscular Dystrophy from the University of Pittsburgh Medical Center
Muscular dystrophy is a group of inherited, progressive muscle disorders. All forms cause progressive weakness and degeneration of the muscles that control movement. Some also affect the heart or other organs. Age of onset is between infancy to adulthood. This condition is caused by defects in genes that control muscle development and function. In some cases, the genes are passed from parent to child. In other cases, the genetic mutation occurs spontaneously. There is no cure. However, treatment may help improve the symptoms. More information about Muscular Dystrophy is available from the University of Pittsburgh Medical Center.
Major Characteristics of the Muscular Dystrophies
Age of onset, inheritance, muscles first affected, and progression. Read more at the Muscular Dystrophy Association.
Interactive Tutorial: Duchenne/Becker Muscular Dystrophy
http://www.yourgenesyourhealth.org/dmd/whatisit.htm
Video: DMD Gene Therapy Injection with Dr. Mendell and Kilbarger Family
7 min 31 sec video about emerging gene therapy treatments for MDA from the Muscular Dystrophy Association.
Video: Hope For Muscular Dystrophy
Information on enzyme replacement thearapy trials and MD from Healthcentral.com.
Corticosteroid treatment of Duchenne dystrophy
Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society available at the National Guideline Clearinghouse.
Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy.
Major recommendations from the American Academy of Pediatrics Section on Cardiology and Cardiac Surgery available from the National Guideline Clearinghouse.
Full Text: Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity.
OBJECTIVE: The collagen VI muscular dystrophies, Bethlem myopathy and Ullrich congenital muscular dystrophy, form a continuum of clinical phenotypes. Glycine mutations in the triple helix have been identified in both Bethlem and Ullrich congenital muscular dystrophy, but it is not known why they cause these different phenotypes. METHODS: We studied eight new patients who presented with a spectrum of clinical severity, screened the three collagen VI messenger RNA for mutations, and examined collagen VI biosynthesis and the assembly pathway. Full text available at Pubmed.
Full text: Profound human/mouse differences in alpha-dystrobrevin isoforms: a novel syntrophin-binding site and promoter missing in mouse and rat
The dystrophin glycoprotein complex is disrupted in Duchenne muscular dystrophy and many other neuromuscular diseases. We show here that, contrary to the literature, most alpha-dystrobrevin genes, including that of humans, encode three distinct syntrophin-binding sites, rather than two, resulting in a greatly enhanced isoform repertoire. Lineage-specific mutations in the murids mean that the mouse brain has fewer than half of the alpha-dystrobrevin isoforms found in the human brain. Our finding that there are likely to be fundamental functional differences between the alpha-dystrobrevins (and therefore the dystrophin glycoprotein complexes) of mice and humans raises questions about the current use of the mouse as the principal model animal for studying Duchenne muscular dystrophy and other related disorders, especially the neurological aspects thereof. Full text available at BMC Biology.
Full text: Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy
Caveolae are invaginations of the plasma membrane involved in many cellular processes, including clathrin-independent endocytosis, cholesterol transport, and signal transduction. They are characterized by the presence of caveolin proteins. Mutations that cause deficiency in caveolin-3, which is expressed exclusively in skeletal and cardiac muscle, have been linked to muscular dystrophy. Polymerase I and transcript release factor (PTRF; also known as cavin) is a caveolar-associated protein suggested to play an essential role in the formation of caveolae and the stabilization of caveolins. Here, we identified PTRF mutations in 5 nonconsanguineous patients who presented with both generalized lipodystrophy and muscular dystrophy. Full text available at Pubmed.
Full Text: Making Fast-Twitch Dystrophic Muscles Bigger Protects Them from Contraction Injury and Attenuates the Dystrophic Pathology.
The lack of functional dystrophin protein in Duchenne muscular dystrophy (DMD) renders muscle fibers highly fragile and susceptible to damage during contractions. Contraction-mediated injury is a major contributor to the progressive degeneration and etiology of muscle wasting in DMD. The prevailing understanding is that large fibers are highly susceptible to contraction damage and are affected preferentially, whereas smaller fibers are relatively spared in DMD. We tested the hypothesis that a pharmacological treatment that caused myofiber hypertrophy would increase the susceptibility of muscles from dystrophin-deficient mdx mice to contraction-induced injury, and thus aggravate the dystrophic pathology. Full text available at Pubmed.
Full Text: Latent TGF-?–binding protein 4 modifies muscular dystrophy in mice
Most single-gene diseases, including muscular dystrophy, display a nonuniform phenotype. Phenotypic variability arises, in part, due to the presence of genetic modifiers that enhance or suppress the disease process. We employed an unbiased mapping approach to search for genes that modify muscular dystrophy in mice. In a genome-wide scan, we identified a single strong locus on chromosome 7 that influenced two pathological features of muscular dystrophy, muscle membrane permeability and muscle fibrosis. Full text available at Pubmed.
Full Text: CXCR4 enhances engraftment of muscle progenitor cells.
ell-based therapy is a possible avenue for the treatment of Duchenne muscular dystrophy (DMD), an X-linked skeletal muscle-wasting disease. We have demonstrated that cultured myogenic progenitors derived from the adult skeletal muscle side population can engraft into dystrophic fibers of non-irradiated, non-chemically injured mouse models of DMD (mdx5cv) after intravenous and intra-arterial transplantation, with engraftment rates approaching 10%. In an effort to elucidate the cell surface markers that promote progenitor cell extravasation and engraftment after systemic transplantation, we show here that expression of the chemokine receptor CXCR4, whose ligand SDF-1 is overexpressed in dystrophic muscle, enhances the extravasation of these cultured progenitor cells into skeletal muscle after intra-arterial transplantation. Full text available at Pubmed.
Full Text: Measurement of the functional status of patients with different types of muscular dystrophy.
Muscular dystrophy (MD) comprises a group of diseases characterized by progressive muscle weakness that induces functional deterioration. Clinical management requires the use of a well-designed scale to measure patients' functional status. This study aimed to investigate the quality of the functional scales used to assess patients with different types of MD. The results of this study demonstrate the acceptability of the different applications used for measuring functional status in patients with different types of MD. Some of the limitations of these measures as applied to MD should be carefully considered, especially in patients with slowly progressive MD. We suggest that these applications be used in combination with other measures, or that a complicated instrument capable of evaluating the various levels of functional status be used. Full text available at Pubmed.
Full Text: Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives.
The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and early onset of progressive muscle weakness associated with dystrophic pattern on muscle biopsy. The clinical course is broadly variable and can comprise the involvement of the brain and eyes. From 1994, a great development in the knowledge of the molecular basis has occurred and the classification of CMDs has to be continuously up dated. In the last number of this journal, we presented the main clinical and diagnostic data concerning the different subtypes of CMD. In this second part of the review, we analyse the main reports from the literature concerning the pathogenesis and the therapeutic perspectives of the most common subtypes of CMD: MDC1A with merosin deficiency, collagen VI related CMDs (Ullrich and Bethlem), CMDs with abnormal glycosylation of alpha-dystroglycan (Fukuyama CMD, Muscle-eye-brain disease, Walker Warburg syndrome, MDC1C, MDC1D), and rigid spine syndrome, another much rare subtype of CMDs not related with the dystrophin/glycoproteins/extracellular matrix complex. Full text available at Pubmed.
Full Text: Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.
The congenital muscular dystrophies (CMDs) are a group of genetically and clinically heterogeneous hereditary myopathies with preferentially autosomal recessive inheritance, that are characterized by congenital hypotonia, delayed motor development and early onset of progressive muscle weakness associated with dystrophic pattern on muscle biopsy. The clinical course is broadly variable and can comprise the involvement of the brain and eyes. From 1994, a great development in the knowledge of the molecular basis has occurred and the classification of CMDs has to be continuously up dated. We initially present the main clinical and diagnostic data concerning the CMDs related to changes in the complex dystrophin-associated glycoproteins-extracellular matrix: CMD with merosin deficiency (CMD1A), collagen VI related CMDs (Ullrich CMD and Bethlem myopathy), CMDs with abnormal glycosylation of alpha-dystroglycan (Fukuyama CMD, Muscle-eye-brain disease, Walker-Warburg syndrome, CMD1C, CMD1D), and the much rarer CMD with integrin deficiency. Finally, we present other forms of CMDs not related with the dystrophin/glycoproteins/extracellular matrix complex (rigid spine syndrome, CMD1B, CMD with lamin A/C deficiency), and some apparently specific clinical forms not yet associated with a known molecular mechanism. The second part of this review concerning the pathogenesis and therapeutic perspectives of the different subtypes of CMD will be described in a next number. Full text available at Pubmed.
Full Text: Dystrophin and utrophin have distinct effects on the structural dynamics of actin.
We have used time-resolved spectroscopy to investigate the structural dynamics of actin interaction with dystrophin and utrophin in relationship to the pathology of muscular dystrophy. Dystrophin and utrophin bind actin in vitro with similar affinities, but the molecular contacts of these two proteins with actin are different. It has been hypothesized that the presence of two low-affinity actin-binding sites in dystrophin allows more elastic response of the actin-dystrophin-sarcolemma linkage to muscle stretches, compared with utrophin, which binds via one contiguous actin-binding domain. We have directly tested this hypothesis by determining the effects of dystrophin and utrophin on the microsecond rotational dynamics of a phosphorescent dye attached to C374 on actin, as detected by transient phosphorescence anisotropy (TPA). Full text available at Pubmed.
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Scoliosis, a common late symptom of Muscular Dystrophy
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