Geometry.Net - Health_Conditions: Muscular Dystrophies

Muscular Dystrophy
Inherited myopathy; MD. Causes, incidence, and risk factors The group of diseasescalled muscular dystrophies (MD) includes many inherited disorders such as
http://www.pennhealth.com/ency/article/001190.htm

Extractions: Causes, incidence, and risk factors: The group of diseases called muscular dystrophies (MD) includes many inherited disorders such as: These disorders are distinguished from each other by the type of inheritance (sex-linked, dominant gene , recessive gene ), the age when symptoms appear, and the types of symptoms that develop. Because these are inherited disorders, risks include a family history of muscular dystrophy.
Enzymatic Sieving Tor Duchenne And Becker Muscular Dystrophies...
2) 6774. Enzymatic sieving tor Duchenne and Becker muscular dystrophiesin women with familiar risk background. ABSTRACT. In cases
http://www.imbiomed.com.mx/Patol/Ptv44n2/english/Zpt72-03.html

Extractions: ABSTRACT In cases of degenerative myopathies, serum levels of creatine kinase (CK) are considered diagnostically essential. It has also been used as a heterozygous indice in women with family histories of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) where it has been found to be elevated in 70% of the carriers. In the event of the techonological development in the area of molecular biological genetic test, with their high sensitivity and specificity, there was a high tendency of dropping the use of CK testing. A descriptive study involving 24 female subjects between the ages of three and 50 years old, with a high risk of heterozygocity who belonging to seven families with males patients of proven DMD or BMD was undertaken. CK levels were determined and their association with anthropometric measurements as well as their differnces were compared with 24 healthy women. In spite of the fact that their body fat content was founded elevated ( 25%), it was not found to affect in an important way the CK level. The CK levels were found to be 3.69 times more elevated with a larger dispersion in group I than the control group [240 + 362 U/L, vs 66 + 27 U/L (p
New Treatments For Muscular Dystrophies, February 5, 2003
Click here to view. muscular dystrophies. The muscular dystrophies are inheritedmyopathic disorders characterized by progressive muscle weakness and wasting.
http://www.medical-library.org/journals2a/Muscular_Dystrophies.htm

Extractions: This page has moved. Click here to view. The muscular dystrophies. Age at Onset Disorder Inheritance (years) Distribution Prognosis later, limb and respiratory about 15 years after onset muscular dystrophies, muscular dystrophy, distrophy muscles. normal life span. be sporadic or dominant) initially, with later spread to the progression. Possible severe other. disability in middle life. Facioscapulohumeral Autosomal dominant Any age Face and shoulder girdle Slow progression. Minor initially; later, pelvic girdle and disability. Usually normal life legs. span. proximal involvement later. Ocular Autosomal dominant Any age External ocular muscles. face, neck, and arms. Oculopharyngeal Autosomal dominant Any age As in the ocular form but with dysphagia. A genetic defect on the short arm of the X chromosome has been identified in Duchenne dystrophy. The affected gene codes for the protein dystrophin, which is markedly reduced or absent from the muscle of patients with the disease. Dystrophin
Creatine Monohydrate In Muscular Dystrophies: A Double-Blind, Placebo-Controlled
Creatine Monohydrate in muscular dystrophies A DoubleBlind, Placebo-ControlledClinical Study MC Walter, MD; H. Lochmuller, MD; P. Reilich, MD; T. Klopstock
http://www.fsinutrition.com/studies/double_blind.html

Extractions: M. Hennig, MSc; D. Pongratz, MD; and W. Muller-Felber, MD Abstract The authors assessed the safety and efficacy of creatine monohydrate (Cr) in various types of muscular dystrophies in a double-blind crossover trial. Thirty-six patients (12 patients with facioscapulohumeral dystrophy, 10 patients with Becker dystrophy, 8 patients with Duchenne dystrophy, and 6 patients with sarcoglycan-deficient limb girdle muscular dystrophy) were randomized to receive Cr or placebo for 8 weeks. There was mild but significant improvement in muscle strength and daily-life activities by Medical Research Control scales and the Neuromuscular Symptom Score. Cr was well tolerated throughout the study period. FSI Performance Research Institute Products Scientific Research
NEJM -- Systemic Membrane Defect In The Proximal Muscular Dystrophies
Original Article from The New England Journal of Medicine Systemicmembrane defect in the proximal muscular dystrophies.
http://content.nejm.org/cgi/content/short/299/16/841

Extractions: NA Pickard, HD Gruemer, HL Verrill, ER Isaacs, M Robinow, WE Nance, EC Myers, and B Goldsmith Table of Contents Find Similar Articles in the Journal Notify a friend about this article Add to Personal Archive ... Related Articles in Medline Articles in Medline by Author: Pickard, N. A. Goldsmith, B. Medline Citation Abstract We studied lymphocyte capping in 61 patients with Duchenne, Becker, limb-girdle, facioscapulohumeral and congenital muscular dystrophies. All showed a markedly diminished percentage of capped cells when compared with 86 normal controls, providing support for previous evidence that an alteration in membrane fluidity may be a common pathogenic feature in several genetically distinct forms of proximal muscular dystrophy. Heterozygous carriers of Duchenne muscular dystrophy showed diminished capping that was indistinguishable from that of afflicted males and was often present even when serum enzyme levels were normal. Studies in 25 families with 16 suspected sporadic cases indicated that no more than four out of 30 afflicted males may represent new mutations. These findings imply that most cases of Duchenne dystrophy might be prevented by a population screening program for carrier females combined with prenatal detection of afflicted males.
Tab002jel: Nuclear Proteins Associated With Muscular Dystrophies, Dilated Cardio
main article. Nuclear proteins associated with muscular dystrophies,dilated cardiomyopathy, neuropathy or lipodystrophy. Stephen L
http://www-ermm.cbcu.cam.ac.uk/02004908h.htm

Extractions: Table 2. Nuclear proteins associated with muscular dystrophies, dilated cardiomyopathy, neuropathy or lipodystrophy (tab002jel) Protein Location Disease Function Refs Emerin Inner nuclear membrane X-EDMD Not yet known Lamin A/C Nuclear lamina and interior AD-EDMD Not yet known FPLD LGMD-1B DCM AR-CMT2 Lamin B Nuclear lamina and interior LGMD-1A (candidate) Not yet known PABP-2 Nucleoplasm OPMD mRNA processing; regulation of E-box transcription RSK-2 Nucleoplasm Ribosomal 56 kinase 2; CREB TF activator SMN Spinal muscular atrophy mRNA processing and transport; ribonucleoprotein formation Inner nuclear membrane Candidate AD Not yet known Scapuloperoneal MD
Health Ency.: Disease: Limb-girdle Muscular Dystrophies
Ency. home Disease L Limbgirdle muscular dystrophies. Limb-girdle musculardystrophies. Ency. home Disease L Limb-girdle muscular dystrophies.
http://www.austin360.com/shared/health/adam/ency/article/000711.html

Extractions: Important notice Ency. home Disease L Limb-girdle muscular dystrophies Overview Symptoms Treatment Prevention Alternative names: Muscular dystrophy - limb-girdle type Definition: An inherited group of at least 10 different muscular dystrophies that initially affects the muscles of the shoulder girdle and the hips. The disease is progressive and may involve other muscles over a period of time. Causes and Risks This is a large group of genetic diseases featuring muscle weakness and wasting (muscular dystrophy). Most are inherited in an autosomal recessive manner, but some are autosomal dominant. In several cases now the genes are known for this group of diseases. In a few cases the gene causing the disease remains to be discovered. Typically, onset of pelvic muscle weakness (difficulty standing from a sitting position without using arms, climbing stairs) in childhood to young adulthood. Later there is the onset of shoulder weakness with progression to significant loss of mobility or wheelchair dependence over the next 20-30 years. The risk is having a family member with muscular dystrophy.
Muscular Dystrophies: Etiology And Pathogenesis
29Oct-02 Cell Biology 36.709 Mitochondrial Biology I
http://www.umanitoba.ca/faculties/medicine/biochem/labsites/wrogemann/webpage/le
Links
muscular dystrophies. Muscular Dystrophy is a term used to designatea group of hereditary muscledestroying disorders which vary
http://www.mdnyc.org/listing.html

Extractions: that specifically affect children: Duchenne Muscular Dystrophy (DMD) Becker Muscular Dystrophy (BMD) Emery-Dreifuss Muscular dystrophy Limb- Girdle Muscular Dystrophy Fascioscapulohumeral Muscular Dystrophy Myotoninc Dystrophy Congenital Muscular Dystrophy Infantile Progressive Spinal Muscular Atrophy Type 1 Intermediate Spinal Atrophy Type 2 Juvenile Spinal Muscular Atrophy Type 3 Dermatomytositis Polymyositis
Disorder Information - MDAC's Full Disorder List
1. Diseases of Skeletal Muscle a) muscular dystrophies (MD) XLinked AutosomalDominant Autosomal Recessive Footnotes b) Structural myopathies c) Acquired
http://www.mdac.ca/english/disorder-info/disorder-info-23_long_disorder_1a.htm
The Promise Of Gene Therapies For Muscular Dystrophies
The Promise of Gene Therapies for muscular dystrophies. Dr. Puymirat is not alonein the fight to develop effective new therapies for muscular dystrophies.
http://www.mdac.ca/english/profiles/print/print_13_puymirat.htm

Extractions: c) 2002 MDAC Print this page Close this window Cataracts, muscle weakness in the hands, feet, and face, and a decreasing ability to relax contracted muscles are among the symptoms of myotonic dystrophy, which hits one in every 500 people in Québec. But researchers, including Dr. Puymirat, are closer than ever to discovering effective new therapies. Myotonic dystrophy is the most prevalent form of muscular dystrophy in the province of Québec, affecting one person out of 500, and about one in 10,000 nationally. The heritable genetic anomaly responsible for this disease, an expansion of a repeat sequence of DNA, was discovered in 1992. Symptoms range in severity and include progressive muscle weakness and atrophy with a decreasing ability to relax contracted muscles. Dr. Jack Puymirat is an international leader in the study of muscular dystrophy, and especially myotonic dystrophy. Both a clinician and a researcher, Dr. Puymirat is the director of Human Genetics Research Department of the Centre Hospital of the University of Laval (CHUL at http://www.crchul.ulaval.ca/crchul/en/acti/Unite/genetique.htm). "I follow all of the patients in Québec with muscular dystrophy, especially myotonic dystrophy," says Dr. Puymirat. "The clinic allows us to describe the phenotype and to try to correlate the phenotype with the genotype. We think that the longer the expansion, the greater the severity of the disease."
ScienceDaily News Release: Researchers Identify Defect That Causes Rare Muscular
Source Howard Hughes Medical Institute. Date 200207-25. ResearchersIdentify Defect That Causes Rare muscular dystrophies. Subtle
http://www.sciencedaily.com/releases/2002/07/020725080828.htm

Extractions: Previous Story ... Related Stories Next Story Source: Howard Hughes Medical Institute Date: Subtle defects in the processing of a single protein that provides structural integrity to muscle cells can lead to several devastating forms of muscular dystrophy, according to studies by Howard Hughes Medical Institute researchers and their colleagues at the University of Iowa. The scientists reported in two papers published in the July 25, 2002, issue of the journal Nature that defects in enzymes responsible for the processing of the structural protein dystroglycan are the underlying cause of several rare forms of muscular dystrophy that affect muscles and cause additional developmental brain abnormalities including mental retardation. The new findings will immediately help doctors in providing accurate diagnosis and appropriate genetic counseling to patients and their families. In the longer term, knowing the underlying cause of the muscular dystrophies will help researchers tailor their interventions, according to Howard Hughes Medical Institute investigator Kevin Campbell. The disorder also disrupts an important component of learning and memory, so Campbell is hopeful that his teams studies will improve understanding of possible links between muscle physiology and neurobiology.
ScienceDaily News Release: Studies Find Molecular Basis For Brain Defects In Cer
of Iowa researchers and their colleagues have revealed a new molecular mechanismthat appears to be the root cause of a subset of muscular dystrophies.
http://www.sciencedaily.com/releases/2002/07/020729080036.htm

Extractions: Previous Story ... Related Stories Next Story Source: University Of Iowa Health Center Date: IOWA CITY, Iowa Piecing together a biochemical and genetic puzzle, University of Iowa researchers and their colleagues have revealed a new molecular mechanism that appears to be the root cause of a subset of muscular dystrophies. Most muscular dystrophies, as the name suggests, weaken and destroy muscles. However, dystrophies such as Fukuyama Congenital Muscular Dystrophy, Walker-Warburg Syndrome (WWS) and Muscle-Eye-Brain (MEB) disease also involve brain abnormalities that cause severe mental retardation in patients. "They are an interesting group of dystrophies because they affect more than just muscle," said Kevin Campbell, Ph.D., the Roy J. Carver Chair of Physiology and Biophysics and interim head of the department, UI professor of neurology, and a Howard Hughes Medical Institute (HHMI) Investigator.
Welcome To NNI - Patient Education Programmes
The genetic muscle diseases include a very wide range of diseases, the bestknown of which are the muscular dystrophies. The muscular dystrophies,
http://www.nni.com.sg/muscular.htm

Extractions: Introduction Muscle diseases occur in all age groups and can cause serious physical disability. Their impact is especially severe when children and young adults are affected. The needs of these patients are numerous and complicated, and frequently not adequately met. Some muscle diseases respond well to medical treatment, while many of the physical disabilities can be improved or prevented. Hence, although muscle diseases are not as common as neurological disorders such as stroke or epilepsy, they deserve our full attention. The Many Different Muscle Diseases What are the symptoms of Muscle Diseases? The Muscular Dystrophies The muscular dystrophies are a group of muscle diseases, each caused by a specific gene abnormality, with progressive muscle wasting, weakness and contractures. Although the abnormal gene is often inherited, it can also occur spontaneously. These diseases can arise even when no one else in the family is affected. Some muscular dystrophies are very severe, while others cause only mild symptoms. In children, the most common is Duchenne muscular dystrophy, a severe muscle disease which usually only affect boys. Unlike girls, affected boys do not have a second X-chromosome to compensate for an X-chromosome carrying the abnormal gene. Weakness is noticed as they begin to walk or run. Characteristic signs include walking on tiptoe and large calves. The disease occurs in one out of every 3000 newborn male child.
GoGuides.Org Directory | Muscular Dystrophies
Home Health Fitness Disabilities Disorders Conditions Diseases Musculoskeletal Disorders Muscular Diseases muscular dystrophies
http://www.goguides.org/index.php/viewCat/13382
Muscular Dystrophies - General Practice Notebook
muscular dystrophies. The muscular dystrophies are a group of geneticallydetermined diseases which cause wasting and weakness of muscles.
http://www.gpnotebook.co.uk/cache/-328531958.htm
Diagram Of Features Of Common Muscular Dystrophies - General Practice Notebook
medical information from General Practice Notebook. diagram of featuresof common muscular dystrophies. Click here for more information
http://www.gpnotebook.co.uk/cache/-1630535612.htm
Research And Graduate Programs (RGP)
publication date 3/30/2001. 12. NIH/NIAMS NINDS - Therapeutic andPathogenic Approaches for the muscular dystrophies. The National
http://rgp.ufl.edu/fyi/back_issues/v28n19/fyi012.html

Extractions: Prev Top Next publication date - The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Institute of Neurological Disorders and Stroke (NINDS) encourage investigator-initiated research grant applications of therapeutic and pathogenic approaches for the muscular dystrophies . Responses to this program announcement may include studies in appropriate animal models or preclinical or clinical studies in patients with Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), facioscapulohumeral dystrophy (FSHD), limb-girdle muscular dystrophy (LGMD), myotonic dystrophy (DM), congenital muscular dystrophy (CMD), Emery-Dreifuss muscular dystrophy (EMD), or other forms of muscular dystrophy. A principal goal of this initiative is to promote research that will lead to better treatment for the muscular dystrophies. Important research priorities include studies on gene and stem cell therapies, pharmacological approaches to treatment, and clarification of the role of inflammatory mechanisms. Investigators with diverse scientific interests are invited to apply their expertise to basic, applied, and clinical research to enhance the understanding of the pathogenesis and treatment of the muscular dystrophies, including the development and sharing of appropriate resources, including animal models. Muscular dystrophies collectively have a high impact on health, affecting tens of thousands of people in the United States alone. The diseases are characterized by weakness and wasting of muscles. Many incidents of muscular dystrophy represent new occurrences of disease, where there is no prior family history. Though research has recently revealed much about genetic defects associated with many forms of muscular dystrophy, treatment for the diseases has not changed significantly. There is a need to learn more about pathogenesis of the diseases and ways to treat affected people.
MUSCDYST.UIM
Molecular Basis for Brain Defects in Certain muscular dystrophies. Most musculardystrophies, as the name suggests, weaken and destroy muscles.
http://www.newswise.com/articles/2002/7/MUSCDYST.UIM.html
Muscular Dystrophies : Meddie Health Search
ITEMS LINKS Ask NOAH About Muscular Dystrophy The basics, genetics, diagnosis,care and treatment, specific types and information resources.
http://www.meddie.com/search/Health/Conditions_and_Diseases/Neurological_Disorde

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