21. The Muscular Dystrophies (MD) Are A Heterogenous Group Of Genetically Determined Childhood muscular dystrophies Veena Kalra Professor of PediatricsAll India Institute of Medical Sciences New Delhi, The muscular http://www.indegene.com/Neu/FeatArt/indNeuFeatArt4.html?type=Neu

22. Neuromuscular Disease Research: Muscular Dystrophies muscular dystrophies. Certain muscular dystrophies are also known toaffect organs other than skeletal muscle, including the heart. http://www.bcm.tmc.edu/neurol/research/nmus/nmus3a4.html

Muscular Dystrophies Department of Neurology, Baylor College of Medicine Comments to: neurons URL:http://www.bcm.tmc.edu/neurol/index.html

23. CMGS-Muscular Dystrophies (other Than DMD/BMD)/14.1.00 muscular dystrophies (other than DMD/BMD). The muscular dystrophiesare Congenital muscular dystrophies (CMD). These are a group http://www.ich.ucl.ac.uk/cmgs/othermd.htm

Muscular Dystrophies (other than DMD/BMD) dystrophinopathy (DMD/BMD) , the X-linked recessive form of muscular dystrophy and X-linked Emery-Dreifuss muscular dystrophy (EDMD) severe childhood autosomal recessive form known as (SCARMD) which clinically resembles DMD, which accounts for 5% that of DMD in Japan, Europe and North America. However, in certain countries where cousin marriages are traditional, such as Kuwait the ratio of SCARMD to DMD is about 36.3% (Ozawa et al. 1998). The rest of the dystrophies include Facioscapulohumeral muscular dystrophy (FSHMD) , the Limb-girdle muscular dystrophies (LGMD) , and congenital muscular dystrophies (CMD) Emery-Dreifuss muscular dystrophy ( EDMD Location: Xq27.3-q28 Gene product: Emerin , a nuclear membrane protein with 6 exons. Nearly all emerin mutations result in complete loss of emerin or very great reduction in emerin levels Clinical features:- cardiac conduction defects, early contractures at the neck, ankles and elbows and slowly progressive wasting of certain specific muscles. Sudden heart failure in middle age is by far the most common cause of death. Autosomal dominant form of EDMD Location: 1q21.3

24. Studies Find Basis For Brain Defects In Some Muscular Dystrophies Studies Find Basis For Brain Defects In Some muscular dystrophies. Most musculardystrophies, as the name suggests, weaken and destroy muscles. http://www.uiowa.edu/~ournews/2002/july/0725braindefects.html

CONTACT: JENNIFER BROWN 5137 Westlawn Iowa City IA 52242 (319) 335-9917; fax(319) 384-4638 e-mail: brownj@mail.medicine.uiowa.edu Release: July 25, 2002 Studies Find Basis For Brain Defects In Some Muscular Dystrophies 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. The results of two new studies by Campbell and his colleagues, which appear in the July 25 issue of the journal Nature, provide new diagnostic tools that will help physicians make precise diagnoses and accurate prognoses for patients with these congenital muscular dystrophies. The lead authors of the two papers are Dan Michele, Ph.D., a UI postdoctoral fellow in physiology and biophysics and neurology, and Steven Moore, M.D., Ph.D., UI professor of pathology and a staff physician with the Veterans Affairs Medical Center in Iowa City.

25. Child Neurology [Ljubljana, Slovenia]: Muscular Dystrophies: From Genes Via Musc muscular dystrophies from genes via muscles to the clinical facts 14 th 15th March 2003. TOPICS. 10.00 - 10.45, Congenital muscular dystrophies, Angelini. http://animus.mf.uni-lj.si/neurology/dogodki/2003_mercuri_e.htm

Muscular dystrophies: from genes via muscles to the clinical facts th th March 2003 TOPICS Eugenio Mercuri, London, Italy Floppy infant syndrome Clinical/MRI/genetic presentation of neuromuscular disorders Rigid spine syndrome Corrado Angelini, Italy Congenital muscular dystrophies Prognostic factors in treating DMD Nina Barišiè, Croatia Congenital myasthenic syndrome Janez Zidar, Slovenia Limb-girdle dystrophies M Meznaric - Petruša, Slovenia Early histopatological and immunohistochemical findings in some muscular dystrophies Genetic aspects of (myotonic) dystrophies Breda Šušteršic et al, Slovenia The generational aspect of myotonic dystrophy: three generations of the family with two siblings of congenital myotonic dystrophy The floppy newborn: a 10-year retrospective study VENUE GH Union, Ljubljana, Slovenia

26. Child Neurology [Ljubljana, Slovenia]: Muscular Dystrophies: From Genes Via Musc muscular dystrophies from genes via muscles to the clinical facts 1415 marec2003. PREDAVATELJI. 10.00 - 10.45, Congenital muscular dystrophies, Angelini. http://animus.mf.uni-lj.si/neurology/dogodki/2003_mercuri.htm

Medicinska fakulteta v Ljubljani - Teèaji otroške nevrologije Sekcija za otroško nevrologijo SZD in Ustanova za otroško nevrologijo vas vabijo na simpozij z mednarodno udeležbo Muscular dystrophies: from genes via muscles to the clinical facts 14-15 marec 2003 PREDAVATELJI Eugenio Mercuri, London, Italy Floppy infant syndrome Clinical/MRI/genetic presentation of neuromuscular disorders Rigid spine syndrome Corrado Angelini, Italy Congenital muscular dystrophies Prognostic factors in treating DMD Nina Barišiè, Croatia Congenital myasthenic syndrome Janez Zidar, Slovenia Limb-girdle dystrophies M Meznaric - Petruša, Slovenia Early histopatological and immunohistochemical findings in some muscular dystrophies Genetic aspects of (myotonic) dystrophies Breda Šušteršic et al, Slovenia The generational aspect of myotonic dystrophy: three generations of the family with two siblings of congenital myotonic dystrophy The floppy newborn: a 10-year retrospective study MESTO DOGAJANJA GH Union - Dvorana Orhideja Miklošièeva 1 Ljubljana KOTIZACIJA Kotizacija: 20.000 SIT

27. Member Sign In The Childhood muscular dystrophies Making Order Out of Chaos from Seminarsin Neurology ChangYong Tsao, MD, Department of Neurology http://www.medscape.com/viewarticle/417568

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28. Member Sign In The Childhood muscular dystrophies Making Order Out of Chaos from Seminarsin Neurology. Congenital muscular dystrophies. The congenital http://www.medscape.com/viewarticle/417568_6

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29. Significant Items In Senate Appropriations Committee Report Duchenne Muscular Dystrophy The Committee urges NIAMS to intensify its researchinto the muscular dystrophies, and to continue working closely with the NINDS http://www.niams.nih.gov/ne/reports/congree_rep/cj2004/sigitems.htm

Highlights Osteoarthritis Initiative Press Releases Upcoming Meetings ... Reports Search NIAMS Reports Significant Items in Senate Appropriations Committee Report FY 2004 Budget The following section represents FY 2003 Congressional requirements for reports and significant items derived from Senate Report 107-216. These actions discussed below are contingent on inclusion of similar language and funding in the final FY 2003 appropriations and related reports. Additional items may be transmitted at a later date as a result of the final Conference report. Item Duchenne Muscular Dystrophy - The Committee urges NIAMS to intensify its research into the muscular dystrophies, and to continue working closely with the NINDS to identify collaborative opportunities to advance basic, clinical, and translational research into treatment for Duchenne muscular dystrophy. In addition, the Committee encourages NIAMS to coordinate with the NINDS and the Center for Disease Control and Prevention to develop strategic research priorities for basic and applied research in the Duchenne and Becker muscular dystrophies. (p. 128) Action taken or to be taken Item Gender Differences in Musculoskeletal Biology - Recent scientific advances have begun to make it possible to understand underlying gender-dependent differences that contribute to differences in disease incidence and severity between males and females. Osteoarthritis, rheumatoid arthritis, and osteoporosis are expressed to a greater extent in females. The Committee encourages NIAMS to work to identify the extent of these gender differences in musculoskeletal disorders and develop a plan for addressing the questions that require further research. (p. 128)

30. Mitochondrial And Metabolic Disorders And Muscular Dystrophies (MMMD) Mitochondrial and Metabolic Disorders and muscular dystrophies (MMMD). RequestReprint, Fitzsimons, R. Facioscapulohumeral muscular dystrophy. http://www.athenadiagnostics.com/site/content/diagnostic_ed/references/mmmd.asp

Mitochondrial and Metabolic Disorders and Muscular Dystrophies (MMMD) Request Reprint Fitzsimons, R. Facioscapulohumeral muscular dystrophy. Current Opinion in Neurology 1999; 12(5):501-511. Simaan, E.M. et al., Unusual Presentation of Kearns-Sayre Syndrome in Early Childhood. Pediatric Neurology 1999; 21:830-831. Andreu, A.L. et al., Exercise Intolerance due to Mutations in the Cytochrome b Gene of Mitochondria. New England Journal of Medicine 1999; 341:1037-1044. Vergani, L. et al., Infantile lipid storage myopathy with nocturnal hypoventilation shows abnormal low-affinity muscle carnitine uptake in vitro. Neuromuscular Disorders 1999; 9:320-322. Request Reprint Johns, D. Mitochondrial DNA and Disease. New England Journal of Medicine 1995; 333(10):638-644. First Name: Last Name: Salutation: Dr. Ms. Mr. DO MD PhD Office Address Home Address Institution: Address 1: Address 2: City: State: Zip: Telephone: Email Address: Neurological Disorders Alzheimer's Neurogenetic Paraneoplastic ... Accreditations and Licensing

31. Neuromuscular - LGD associated myopathy Cardiomyopathy (?LGMD1B) Dilated Cardiomyopathy 6q23 CongenitalMyopathies Lateonset muscular dystrophies Cytoplasmic body myopathies http://www.neuro.wustl.edu/neuromuscular/musdist/lg.html

Front Search Index Links ... Patient Info LIMB-GIRDLE MUSCULAR DYSTROPHY (LGMD) SYNDROMES LGMD: General features Limb girdle dystrophies: Dominant : Myotilin; 5q31; Dysarthria : Lamin A/C; 1q21; + Cardiac : Caveolin-3; 3p25; Child onset Dilated Cardiomyopathy Bethlem Central core : Ryanodine receptor (19q13) Cytoplasmic body : 2q24; 2q21 + Other Distal myopathies : 5q31; ? Same locus as Emery-Dreifuss : Lamin A/C; 1q21 Facioscapulohumeral Myofibrillar (Desmin storage) Desmin : 2q35; AD or AR a B-crystallin Myotonic : DMPK; 19q13 Oculopharyngeal Paget disease + Myopathy Spheroid body Limb girdle dystrophies: Recessive : Calpain-3 ;15q15 : Dysferlin; 2p12 g -Sarcoglycan; 13q12 a -Sarcoglycan; 17q21 b -Sarcoglycan; 4q12 d -Sarcoglycan; 5q33 : Telethonin; 17q11-12 : FKRP; 19q13.3 : Titin; 2q31 Merosin (Laminin a Absent Reduced Abnormal LGMD 2I Caveolin-3 mutation (Gly55Ser) Limb girdle dystrophies: X-linked Barth : G4.5 (Tafazzins); Xp28 Becker : Dystrophin; Xp21 Duchenne : Dystrophin; Xp21 Emery-Dreifuss : Emerin; Xq28 McLeod Syndrome : XK; Xp21.1; Vacuolar Danon's disease : LAMP-2; Xq24

32. 1Up Health > Limb-girdle Muscular Dystrophies > Causes, Incidence, And Risk Fact Comprehesive information on Limbgirdle muscular dystrophies (Musculardystrophy - limb-girdle type). Covers info such as , alternative http://www.1uphealth.com/health/limb_girdle_muscular_dystrophies_info.html

1Up Health Limb-girdle muscular dystrophies Alternative Medicine Clinical Trials ... Health Topics A-Z Search 1Up Health Limb-girdle muscular dystrophies Information Limb-girdle muscular dystrophies Causes, Incidence, and Risk Factors 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, Incidence, and Risk Factors 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.

33. 1Up Health > Limb-girdle Muscular Dystrophies (Muscular Dystrophy - Limb-girdle Comprehesive information on Limbgirdle muscular dystrophies (Muscular dystrophy- limb-girdle type). Limb-girdle muscular dystrophies Information. Guide. http://www.1uphealth.com/health/limb_girdle_muscular_dystrophies.html

1Up Health Alternative Medicine Clinical Trials Health News ... Health Topics A-Z Search 1Up Health Limb-girdle muscular dystrophies Information Guide 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. Jump to a Section of this Guide Definition Causes, Incidence, and Risk Factors Symptoms Prevention ... Calling your Health Care Provider Related Tools and Utilities Search Books on Amazon: Read Articles on eLibrary: Health Products on drugstore.com: Search 1Up Health A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial reviewers . A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch). Home Contact Us Privacy Links Directory

34. Www.bmj.com/cgi/content/full/317/7164/991 Similar pages (112 192205) Non-sarcolemmal muscular dystrophies(112 193-205) Non-sarcolemmal muscular dystrophies Susan C. Brown, FrancescoMuntoni and Caroline A. Sewry The muscular dystrophies are characterised by http://www.bmj.com/cgi/content/full/317/7164/991

35. Emory Genetics Lab, Becker & Duchenne Muscular Dystrophies BECKER DUCHENNE muscular dystrophies. INDICATIONS, Click here for GeneReviews Clinical Summary. Duchenne Becker muscular dystrophies http://www.emory.edu/WHSC/GENETICSLAB/dna/becker.htm

INDICATIONS Click here for Gene Reviews Clinical Summary Mutations in the dystrophin gene are responsible for the following phenotypes (clinical presentations): 1. Duchenne Muscular Dystrophy, 2. Becker Muscular Dystrophy, 3. Quadriceps muscle weakness, 4. Isolated myalgias, 5. Cardiomyopathy, and 6. Myoglobinuria. In 66% of affected males, a deletion or duplication involving one or more exons of the dystrophin gene causes the disease. The remaining cases are caused by point mutations in the dystrophin gene. Due to the high new mutation rate, the frequent occurrence of germline mosaicism, and the high frequency of intragenic recombination, linkage analysis on families is subject to error. Obtaining a definitive genetic diagnosis by direct DNA analysis is therefore most accurate in patients with the disease. Genetic analysis is performed by multiplex DNA amplification. Our lab tests only males who are suspected of having a dystrophinopathy , with a detection of >80% for dystrophin gene deletions, which accounts for 45-50% of all cases. This test is 99.9% accurate, with a positive predictive value of 99.7% when a deletion is observed. SPECIMEN SPECIMEN REQUIREMENTS SHIPPING REQUIREMENTS Blood 5-10 ml whole blood in an EDTA ( purple top ) or ACD ( yellow top ) tube.

36. Ask NOAH About: Muscular Dystrophy The basics, genetics, diagnosis, care and treatment, specific types and information resources. From Category Health Conditions and Diseases muscular dystrophies...... Parents Project Genetics Primer Muscular Dystrophy Campaign Inheritance andthe muscular dystrophies - Muscular Dystrophy Campaign Muscular Dystrophy http://www.noah-health.org/english/illness/neuro/musdys.html

Ask NOAH About: Muscular Dystrophy What is Muscular Dystrophy? Specific Types The Basics Genetics Diagnosis Alphabetical Search ... Return to Neurological Menu What is Muscular Dystrophy? The Basics ALS, MS, MD: What's the Difference - Center for Neurological Study Facts About Metabolic Diseases of the Muscle - Muscular Dystrophy Association (also in Spanish Making Sense of Muscular Dystropy - KidsHealth Neuromuscular Diseases in the MDA Program - Muscular Dystrophy Association The Meaning of Muscular Dystrophy - KidsHealth ... Muscular Dystropy - Methodist Healthcare System, Houston TX (also in Spanish Muscular Dystrophy FAQ - Muscular Dystrophy Association of Canada Muscular Dystropy Information Page - NINDS Glossaries Glossary of MD Terms - Muscular Dystrophy Campaign Glossary of Terms - Muscular Dystrophy Association Glossary Muscular Dystrophy - Muscular Dystrophy Association of Canada (also in French Genetics Determining if a Person Has MD or is a Carrier - Muscular Dystrophy Campaign Duchenne Becker Muscular Dystrophy - Your Genes, Your Health (Interactive Flash Presentation) For Mothers - Parents Project Genetics Primer - Muscular Dystrophy Campaign Inheritance and the Muscular Dystrophies - Muscular Dystrophy Campaign Muscular Dystrophy (Duchenne and Becker) - New South Wales Genetics Program, Australia

37. Muscular Dystrophies muscular dystrophies. muscular dystrophies are a group of unrelated diseaseseach with a different genetic trait and clinical manifestations. http://www.freshwinds.org.uk/medical/MuscularDystrophy.htm

Muscular dystrophies Muscular dystrophies are a group of genetically transmitted diseases, characterised by progressive degeneration of different muscle groups. Muscular dystrophies are a group of unrelated diseases each with a different genetic trait and clinical manifestations. Some may be severe while others are mild expressing themselves at different periods of life. They are distinguished from other neuromuscular diseases by the following four obligatory criteria (this would exclude neurogenic diseases e.g. spinal muscular atrophy and non hereditary myopathies): It is a primary myopathy (abnormality of the muscle) It has a genetic basis It has a progressive course It involves degeneration and death of muscle fibres at some stage The muscle groups most commonly involved are skeletal muscles, although smooth and cardiac muscle may also be affected in some conditions.  The most common muscular dystrophy is known as Duchenne Muscular Dystrophy (DMD). Other muscular dystrophies include; Becker muscular dystrophy Congenital muscular dystrophy Emery-Dreifuss muscular dystrophy Facioscapulohumeral muscular dystrophy Myotonic muscular dystrophy This article deals only with DMD.

38. Txt001jel: Muscular Dystrophies, Dilated Cardiomyopathy, Lipodystrophy And Neuro this article. muscular dystrophies, dilated cardiomyopathy, lipodystrophyand neuropathy the nuclear connection. Stephen L. Maidment http://www.expertreviews.org/02004842h.htm

Expert Reviews in Molecular Medicine: http://www.expertreviews.org/ Accession information: (02)00484-2h.htm (shortcode: txt001jel); 30 July 2002 Reprint/PDF version How to cite this article Muscular dystrophies, dilated cardiomyopathy, lipodystrophy and neuropathy: the nuclear connection Stephen L. Maidment and Juliet A. Ellis Author contact details For many years, cell pathologists regarded the nucleus as little more than a repository for the genome and attendant mRNA synthesis. However, it has recently emerged that several disease states are caused by defects in proteins specific to the nucleus, thereby initiating interest in the possibility of diverse functionality associated with this organelle. Perhaps not surprisingly, some of the first diseases found to involve nuclear proteins were the disorders of growth and differentiation, resulting from defective tumour suppressor genes, DNA-repair genes or proto-oncogenes ( Table 1 ). Further discussion of the functions of these proteins is beyond the scope of this article, and the reader is referred to reviews listed in Table 1 In 1994, an Italian research group (Ref.

39. Satellite Cells In Human Muscular Dystrophies Satellite cells in human muscular dystrophies. We examined the number and ultrastructureof SC in acute and chronic forms of muscular dystrophies (MD). http://www.uni-tuebingen.de/Hirnforschung/meier/abstract/absmey12.htm

40. Limb-girdle Muscular Dystrophies Limbgirdle muscular dystrophies. Definition An inherited group ofat least 10 different muscular dystrophies that initially affects http://www.pennhealth.com/ency/article/000711.htm

Disease Injury Nutrition Poison ... Prevention Limb-girdle muscular dystrophies 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. Alternative Names: Muscular dystrophy - limb-girdle type Causes, incidence, and risk factors: 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.

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