81. Neuromuscular Disease Project - Boston Childen's Hospital - Harvard Medical Scho Limb Girdle Muscular Dystrophy (LGMD). muscular dystrophies are genetic disorders that involve progressive muscle wasting and muscle weakness. http://www.tch-genomics.org/pat_fam-lgmd.php

Home Overview Links News ... Support Become a Participant Many families are interested in supporting our research. Click here to find out how you can help. Need Assistance? Contact our on-staff research genetic counselor Investigators Louis Kunkel, PhD Robert Brown, MD Alan Beggs, PhD Emanuela Gussoni, PhD ... Isaac Kohane, MD, PhD Limb Girdle Muscular Dystrophy (LGMD) Inheritance: Most types of LGMD are autosomal recessive, while some are autosomal dominant. Genetic Alteration: There are more than ten different genes whose mutations can cause LGMD. Incidence: Because this group of diseases is so variable, an incidence cannot be estimated. Onset: Childhood through adulthood Muscles Affected: Voluntary muscles of the pelvic and shoulder girdle areas Muscular dystrophies are genetic disorders that involve progressive muscle wasting and muscle weakness. If we look at the muscle of an individual with a muscular dystrophy under a microscope, we see small changes in the structure of the muscle cells. The muscle degenerates over time, leading to the muscle weakness. LGMD is a large group of genetic diseases characterized by muscle weakness and wasting. There are at least 10 different muscular dystrophies in this group; these initially affect the muscles of the shoulder girdle and the hips. These diseases are progressive and may involve other muscles over a period of time. The muscles affected are the voluntary (skeletal and striated) muscles that are proximal, or close to the trunk of the body. LGMD may progress to involve distal muscles (muscle further from the trunk of the body).

82. The Vest Airway Clearance System - Muscular Dystrophy The muscular dystrophies are a group of inherited, progressive neuromuscular disorders classified on the basis of specific genetic characteristics. http://www.thevest.com/conditions/md/default.asp?gs=patients

83. Muscular Dystrophy Michele DE, Barresi R, Kanagawa M (2002) Posttranslational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies Nature 418, 417; http://www.rds-online.org.uk/pages/page.asp?i_ToolbarID=3&i_PageID=142

84. Muscular Dystrophy Congenital muscular dystrophies (Developments in Neurology, 13) Y. Fukuyama(Editor), et al / Hardcover / Published 1997 Our Price $259.25 (Special Order). http://www.loxly.com/books/disabilities/md1.html

Muscular dystrophy Home New Search Muscular Dystrophy : The Facts (Oxford Medical Publications) Alan E. H. Emery; Paperback Duchenne Muscular Dystrophy Hardcover Muscular Dystrophy in Children: A Guide for Families Irwin M. Siegel; Paperback Because of Thomas (Light Line) Usually ships in 2-3 days Sara Tatham / Paperback / Published 1995 Our Price: $6.49 Chance of a Lifetime (Silver Blades, No 3) Usually ships in 24 hours Melissa Lowell / Paperback / Published 1998 Our Price: $3.19 ~ You Save: $0.80 (20%) Read more about this title... Duchenne Muscular Dystrophy (Oxford Monographs on Medical Genetics, No 24) Usually ships in 2-3 days Alan E. H. Emery / Hardcover / Published 1993

85. FamilyFun: Health Encyclopedia: Muscular Dystrophy Muscular Dystrophy. The muscular dystrophies are classified according to age at onset, rate of progression, heredity pattern and muscle groups affected. http://familyfun.go.com/parenting/child/health/childhealth/dony79enc_musc/

Search FamilyFun Tools Parent Problem Solver Field Guide to Parenting Pregnancy Calendar ... Solutions A to Z Muscular Dystrophy These is a relatively rare group of progressive, genetic diseases that gradually destroy muscle tissue. The most common childhood forms are Duchenne muscular dystrophy and Becker muscular dystrophy; both affect about one in every 3,000 male babies born. Less common forms of muscular dystrophy can affect both boys and girls. The muscular dystrophies are classified according to age at onset, rate of progression, heredity pattern and muscle groups affected. Symptoms vary with the type. The major forms of muscular dystrophy gradually weaken the muscles that control walking, manual dexterity and breathing. Other symptoms can include mental retardation and neurological and cardiac involvement. WHEN SHOULD I SUSPECT MY CHILD HAS MUSCULAR DYSTROPHY? Notify your pediatrician if the child exhibits the following conditions, possibly indicating muscular dystrophy: WHAT CAUSES MUSCULAR DYSTROPHY?

86. EMJA: Duchenne Muscular Dystrophy: Hopes For The Sesquicentenary Clinicians established the clinical heterogeneity of the muscular dystrophies, and various disorders were identified, including facioscapulohumeral muscular http://www.mja.com.au/public/issues/179_09_031103/byr10494_fm.html

Home Issues Classifieds Contact ... Search PubMed for related articles Editorials Duchenne muscular dystrophy: hopes for the sesquicentenary Edward Byrne Andrew J Kornberg and Robert Kapsa MJA We understand the molecular basis, and a cure may soon be possible The French neurologist in 1861, outlining the key clinical features, including lordosis and calf hypertrophy. Success in delineating the basis of the dystrophies awaited the molecular era. Kunkel and coworkers identified a patient with a cytologically recognisable deletion on the X chromosome (Xp21) and realised that, if they allowed this to hybridise (pair) with normal DNA, they could find the gene. By ingenious use of their novel techniques, they created probes containing part of the Duchenne gene and found that one detected submicroscopic deletions in some affected boys. This led to the identification of the gene and eventual delineation of its sequence. Boys with DMD were found to have mutations that produced non-functional dystrophin protein. BMD patients were identified as having mutations that produced dystrophin protein with some function. The structure of the functional protein was predicted from the genetic sequence

87. FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY : Contact A Family - For Families With Di This may relate to inflammation within the muscles, which seems to occur more in FSH MD than other muscular dystrophies. FSH MUSCULAR DYSTROPHY SUPPORT GROUP. http://www.cafamily.org.uk/Direct/f15.html

printer friendly FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY home more about us in your area conditions information ... how you can help search this site Did you find this page helpful? yes no Facioscapulohumeral Muscular Dystrophy: FSH Muscular Dystrophy; FSH MD Facioscapulohumeral Muscular Dystrophy is a muscle wasting condition, caused by a genetic fault, which may be affecting the regulation of the level of many of the different proteins in muscles. The name describes the usual distribution of weakened muscles: 'facio' (facial); 'scapulo' (shoulder blade); 'humeral' (upper arm). Landouzy-Dejerine and facioscapuloperoneal muscular dystrophy are two previously used terms. FSH MD is probably the third most common muscular dystrophy (after Duchenne and Myotonic Dystrophies - see entries), although its frequency may vary in different places and quite possibly in different racial groups. Estimates of frequency have varied from one in about 400,000 to one in 20,000. In Britain, the frequency is at least one person in every 50,000, and probably closer to one in 20,000, accounting for between about 1,200 and 3,000 cases in all. FSH MD is a genetic condition, present from when, or soon after, egg and sperm come together at conception. Normally, at a particular site on the gene map, each of us has many copies of a particular sequence of genetic instruction (DNA). FSH MD is caused when the number of copies is reduced below a certain level. In some way this seems to influence the production or assembly of several of the protein components of the affected muscles. In general, the fewer the number of copies of the DNA sequence remaining, the earlier the clinical onset and the greater the effect on muscles.

88. MUSCULAR DYSTROPHY And Neuromuscular Disorders : Contact A Family - For Families The muscular dystrophies are a group of disorders, caused by a genetic abnormality, that cause progressive weakness. MUSCULAR DYSTROPHY CAMPAIGN. http://www.cafamily.org.uk/Direct/m48.html

printer friendly MUSCULAR DYSTROPHY and neuromuscular disorders home more about us in your area conditions information ... how you can help search this site Did you find this page helpful? yes no The muscular dystrophies are a group of disorders, caused by a genetic abnormality, that cause progressive weakness. Although genetic in origin, there are various reasons why an affected individual might have no family history of a similar condition. Some are severe and limit life expectancy, others relatively mild. They belong to a broader group of conditions called neuromuscular disorders. These are defined as conditions affecting the nerves which pass from the brain and spinal cord to the muscles, for example spinal muscular atrophy and the peripheral neuropathies , the muscles themselves, and the complex junction between each nerve and muscle (myasthenic conditions). Most neuromuscular disorders cause weakness and it can be very difficult for even a specialist to identify the precise cause of the problem. Many, but not all, neuromuscular disorders are inherited. Accurate diagnosis is essential in order to offer the appropriate management and genetic advice. Inheritance patterns As noted, not all neuromuscular disorders are inherited

89. MDAchat | Muscular Dystrophy Association Wed., October 8, 2003 Muscular Dystrophy Association (MDA). MDA CLINICALRESEARCH CHAT. There is no family history of FSHD or any other muscular dystrophies. http://database.azstarnet.com/html/mda/transcripts/20031008FSHD-Clinic-Research.

Enter Chat FAQ Calendar User Policy ... Email Comments MDAchat Chat Transcripts 05:15 PM - 06:45 PM EDT R-McMichael-MD / FSHD-Clinic-Research Wed., October 8, 2003 Muscular Dystrophy Association (MDA) MDA CLINICAL-RESEARCH CHAT "FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY" Guest Host: Robert McMichael, M.D. Dr. McMichael is the MDA Clinic Director in the Ft. Worth-Arlington, Texas area and a frequent contributor to the Ask-the-Experts service. Read more about Dr. McMichael in the Quest article at http://www.mdausa.org/publications/Quest/q62mcmichael.html. MDA Host: Sharon Hesterlee, Ph.D., Director of Research Development DIAGNOSIS, TESTING AND RESEARCH QUESTION How do you classify the types of Facioscapulohumeral muscular dystrophy (FSHD)? DR. MCMICHAEL FSHD classification: * FSHD 1A: the one that is most common, with deletion of part of 4q35. This is a dominant genetic disorder. * FSHD 1B. The clinical findings are the same as FSHD 1A, but there is no 4q35 deletion. * Scapuloperoneal syndromes: Several muscle disorders that can resemble FSHD. QUESTION My 18-year-old was recently diagnosed with FSHD with fragment size of 21. This was quite a shock, as no one in my family has history or symptoms. However, I (age 47) have always had a quirky face, slightly stronger on the right then the left. This is only evident when I try to make extreme faces. I also cannot whistle. This has been the same since I can remember; at least since age 7. My DNA test is pending. Could I be a mosaic, since my symptoms at this age are so mild that I didn't know that anything was wrong with me?

90. Muscular Dystrophy - Humana Press Muscular Dystrophy (Hardcover). The various DNA techniques focus on both the Xlinked muscular dystrophies and the autosomal recessive muscular dystrophies. http://www.humanapress.com/Product.pasp?txtCatalog=HumanaBooks&txtProductID=1-59

91. UCSF Children's Hospital | Muscular Dystrophy Clinic muscular dystrophies (MD) are a group of 30 inherited disorders, which cause the muscles that help us move to weaken and degenerate over time. http://www.ucsfhealth.org/childrens/special/m/36209.html

University of California, San Francisco About UCSF Quick Links... Admissions Appointments Billing Calendar Clinical Trials Clinics Conditions and Treatments Contact a Patient Contact Us Directions and Maps For Health Professionals Jobs Make A Donation Medical Dictionary Medical Tests News Patient Profiles Specialized Services UCSF Medical Center Volunteer Services Search Health Library Clinical Trials Conditions and Treatments Events and Classes ... Specialized Services Specialized Services Print Format B C F ... All Services Muscular Dystrophy Clinic The Muscular Dystrophy Clinic at UCSF Children's Hospital, sponsored by the Muscular Dystrophy Association, specializes in the diagnosis, treatment and research of muscular dystrophy and other neuromuscular disorders, which affect muscles and nerves. Muscular dystrophies (MD) are a group of 30 inherited disorders, which cause the muscles that help us move to weaken and degenerate over time. Our Muscular Dystrophy Clinic is the only center of its kind in San Francisco that is tailored specifically to children. It offers children and their family's access to doctors, nurses and therapists who are experienced in treating children with neuromuscular diseases. Because we realize that your child's needs are complex, we offer a team approach to care. This means that our team of experts includes a pediatric neuromuscular specialist, orthopedic surgeon, respiratory specialist, genetics counselor, orthotics specialist and physical and occupational therapists, who can address all aspects of your child's care in one place.

92. Muscular Dystrophy: Online Reference For Health Concerns Most types of spinal muscular atrophy, congenital MD, recessive childhood MD, and scapulohumeral MD are dystrophies that can occur due to the autosomal http://www.lef.org/protocols/prtcl-079.shtml

var WebSiteBaseURL = "http://www.lef.org/protocols/prtcl-079.shtml" translation by SYSTRAN MEMBERSHIP PRODUCTS MAGAZINE ... CHECKOUT Health Concerns Selector Select Health Concern Acetaminophen (tylenol) Poi... Acne Adrenal Disease Age-associated Mental Impai... Alcohol Induced Hangover: P... Allergies Alzheimer's Disease Amnesia Amyotrophic Lateral Scleros... Anemia-thrombocytopenia-leu... Anesthesia And Surgical Pre... Anxiety And Stress Arrhythmia (cardiac) Arthritis Asthma Atherosclerosis Attention Deficit Disorder ... Autism Autoimmune Diseases Avoiding Vitamin - A Toxicity Bacterial Infections Balding Bell's Palsy Bladder Conditions Breast Cancer Bursitis Cancer - Overview Cancer Adjuvant Treatment Cancer Chemotherapy Cancer Clinics Cancer Gene Therapy Cancer Prevention Cancer Radiation Therapy Cancer Supplements Cancer Surgery Cancer Treatment: The Criti... Cancer Vaccines Candida (fungal, Yeast) Inf... Cardiovascular Disease: Co... Cardiovascular Disease: Ove... Carpal Tunnel Syndrome Catabolic Wasting Cataract Cerebral Vascular Disease Cervical Dysplasia Cholesterol Reduction Chronic Fatigue Syndrome (cfs) Cirrhosis Colitis (ulcerative) Colorectal Cancer Common Cold Congestive Heart Failure An...

93. Muscular Dystrophy Association The muscular Dystrophy Association is a voluntary health agency — a dedicated partnership between scientists and concerned citizens aimed at conquering http://www.mdausa.org/

document.write('<');document.write('! '); Search Our Site Enter Your Zip Code: Click on your state for local offices and special events in California Florida or New York MDA, IAFF Celebrate 50 Years of Partnership Muscle Biologist Elected To National Academy of Sciences Research News: Vitamin C Helps Mice With CMT1A Research News: MDA Researchers Find Creatine Helps in Duchenne Dystrophy Research News: Gene Found For CMT2A Read More Top Stories or visit the News Archive Upcoming Chats Read Transcripts a video highlighting MDA programs and services Donate Now National Events Volunteer Gift Planning ... Sponsorship Opportunities Read more about our sponsors Link your Web site to MDA Receive e-mail news, tips and updates from MDA or ask us a quick question.

94. Muscular Dystrophy Canada | Dystrophy Musculaire Canada - - english français, All rights reserved (c) 2004, muscular Dystrophy Canada, Best viewed with IE5.5 or higher, 800x600. http://www.mdac.ca/

english français

95. Muscular Dystrophy This feature is dedicated to muscular Dystrophy, the MDA, and my son, Joey, who died of muscular Dystrophy. Search. Parenting Special Needs muscular Dystrophy. http://specialchildren.about.com/cs/musculardystrophy/l/aa083198.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Parenting Special Needs Home Essentials ... 101 Family Activities zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Autism Behaviors Advocacy Development ... Help zau(256,138,125,'el','http://z.about.com/0/ip/417/0.htm','');w(xb+xb); Stay Current Subscribe to the About Parenting Special Needs newsletter. Search Parenting Special Needs Muscular Dystrophy Santa Claus, the Easter Bunny, and Jerry Lewis what a line-up. Can you think of another holiday as closely associated with an individual or organization as Labor Day is to the Muscular Dystrophy Telethon?  This feature is dedicated to Muscular Dystrophy, the MDA, and my son, Joey, who died of Muscular Dystrophy. Muscular Dystrophy is the terminology used to define a primary group of inherited disorders categorized into forty muscular and neuromuscular diseases that cause weakness and atrophy of the muscles. Muscular Dystrophy affects one in 3,000 males and one in 8,000 females. The onset of MD can occur from birth to adulthood depending on the type of dystrophy. Duchene's is one of the most commonly known dystrophies; it affects one in every 3,500 males. Duchene's strikes males in the two to five year old age range. It is characterized by general muscle weakness which typically begins in the upper arms and upper legs. Progression of Duchene's is slow, yet it will eventually affect all voluntary muscles.

96. Muscular Dystrophy Parenting Special Needs. There s a wide range of muscular and neuromuscular disorders that fall into the muscular dystrophy category. muscular Dystrophy. http://specialchildren.about.com/od/musculardystrophy/

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Parenting Special Needs Genetics Muscular Dystrophy Home Essentials Make Your Own Baby Wipes FREE Parenting Newsletter ... 101 Family Activities zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Autism Behaviors Advocacy Development ... Help zau(256,138,125,'el','http://z.about.com/0/ip/417/0.htm','');w(xb+xb); Stay Current Subscribe to the About Parenting Special Needs newsletter. Search Parenting Special Needs Muscular Dystrophy There's a wide range of muscular and neuromuscular disorders that fall into the Muscular dystrophy category. Treatments and intervention plans are available through MDA clinics. Alphabetical Recent Up a category Muscular Dystrophy from About A personal account of living with a child who had a rare form of MD along with an overview of Muscular dystrophy and the associated neuromuscular disorders. From Parenting Special Needs. Spinal Muscular Atrophy Spinal Muscular Atrophy is the second most common form of Muscular Dystrophy. Awareness of this disease remains limited, despite the fact that one in 6,000 are born yearly with SMA. Wheelchair Safety Individuals who use wheelchairs are highly vulnerable. It's our responsibility to protect/empower them by keeping the chair in optimum working condition and making sure that access is safe.

97. Muscular Dystrophy / Family Village Library Library M N. muscular Dystrophy. http://www.familyvillage.wisc.edu/lib_md.htm

Muscular Dystrophy Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search Google for "Muscular Dystrophy" Who to Contact Muscular Dystrophy Association 3300 E. Sunrise Drive Tucson, Arizona, USA 85718 Email: mda@mdausa.org Web: http://www.mdausa.org/ MDA fights forty neuromuscular diseases through a worldwide research effort, a nationwide program of medical services, and professional and public health education. MDA's Medical Advisory and Scientific Advisory committees review projects that will increase knowledge in the neuromuscular field and may lead to treatments or cures for muscular dystrophy and related disorders. MDA's Task force studies all aspects of genetic defects implicated directly or indirectly in neuromuscular diseases. Their patient services program provides comprehensive medical services to children and adults with neuromuscular diseases. MDA clinics provide diagnosis and follow-up care from specialists. Through local chapters MDA patients receive many other direct services, including assistance with purchase and repair of wheelchairs, recreation at summer camps, and selected transportation assistance. MDA publishes and distributes a wide variety of print and audiovisual materials to promote public understanding and provide information to parents and caregivers of MDA patients. They offer a quarterly newsletter, MDA Reports, a publication "Quest" , and a booklet for siblings, "Hey! I'm Here Too!"

98. Dystrophinopathies: Duchenne + Becker Muscular Dystrophy DMD Hypertrophic leg muscle. Duchenne muscular dystrophy Genotype Dystrophin 96% with frameshift mutation; 30% with new mutation; http://www.neuro.wustl.edu/neuromuscular/musdist/dmd.html

Front Search Index Links ... Patient Info DYSTROPHINOPATHIES Clinical syndromes Becker Cardiomyopathy Cramps ... Dystrophin protein Pathology Duchenne Becker Dystrophinopathies: External link From: A Kornberg Duchenne muscular dystrophy Standing from supine position Dystrophinopathies: Clinical l Dystrophin ; Chromosome Xp21; Recessive Becker Cardiomyopathy Cramps Duchenne ... Outliers From NLM Guillaume-Benjamin Duchenne de Boulogne Autographed copy of: De la Paralysie Musculaire Pseudo-hypertrophique... Clinical syndromes: General Usually very high serum CK Genotype-Phenotype correlation DMD: Hypertrophic leg muscle Duchenne muscular dystrophy Genotype : Dystrophin 96% with frameshift mutation 30% with new mutation 10% to 20% of new mutations are gonadal mosaic Onset 3 to 5 yrs Clinical Weakness Distribution Symmetric Most involved muscles: Adductor magnus in legs Course Reduced motor function by 2 to 3 years Steady decline in strength: After 6 to 11 years Gowers sign : Standing up with the aid of hands pushing on knees Failure to walk: 9 - 13 years; Later with steroid treatment Muscle hypertrophy Especially calf May be generalized Increases with age Most commonly due to muscle fibrosis Some relatively spared muscles may have true hypertrophy Musculoskeletal Contractures Treatment Non-surgical Night splints on ankles: More effective than passive stretch Surgical Contracture release of ankles, knees or hips

99. Contractures EmeryDreifuss muscular Dystrophy 2. muscular dystrophy Onset soon after birth; Cardiomyopathy; Nucleus Ultrastructural pathology; http://www.neuro.wustl.edu/neuromuscular/msys/contract.html

Front Search Index Links ... Patient Info CONTRACTURES Contractures with neuromuscular disorders Arthrogryposis Bethlem Myopathy Congenital muscular dystrophy ... Scleroatonic muscular dystrophy (Ullrich) Spinal Muscular Atrophy 5q-linked Congenital X-linked Infantile Tel Hashomer camptodactyly Williams-Beuren syndrome Contractures with myopathy or other neuromuscular disease Congenital Muscular Dystrophy Fukuyama Merosin Deficient Occidental; Normal Merosin With Rigid spine Scleroatonic muscular dystrophy (Ullrich) Dystrophies Dystrophinopathies Bethlem Myopathy (Dominant) Emery-Dreifuss Other myopathies Rigid Spine Syndrome: ? Emery-Dreifuss variant Hereditary IBM + Ophthalmoplegia Congenital myopathy with spindle excess King-Denborough Myasthenia Gravis: Neonatal Spinal Muscular Atrophy 5q-linked Congenital X-linked Infantile Other Schwartz-Jampel Tel Hashomer camptodactyly Camera-Marugo-Cohen syndrome Dermatomyositis ... Muscle fibrosis due to injections Meperidine Pentazocine Heroin Antibiotics in infants Williams-Beuren syndrome Rhabdomyolysis : Severe Emery-Dreifuss Muscular Dystrophy : Emerin; Chromosome Xq28; Recessive

100. Muscular Dystrophy In Children At least seven different types of muscular dystrophy can develop from birth through adolescence. Duchenne muscular dystrophy is http://ucneurology.uchicago.edu/Neurological_Disorders/Pediatric_Neuro_Disorders

At least seven different types of muscular dystrophy can develop from birth through adolescence. Duchenne muscular dystrophy is one of the most common forms and affects children usually before age 6. Symptoms typically include weakness and atrophy (wasting away) of specific muscle groups. Duchenne muscular dystrophy, for example, affects the limbs and trunk muscles, while Emery-Dreifuss muscular dystrophy affects shoulders, arms and shins. Some forms of muscular dystrophy result in premature death, often in early adulthood. Other forms allow the person to live far into their adult years. Heart disease is common among children with certain varieties of muscular dystrophy. Treatment Children with muscular dystrophy receive care from many specialists in the University of Chicago Hospitals' Muscular Dystrophy Association clinic. These include pediatric neurologists, pediatric cardiologists, orthopaedic surgeons, orthotists (for braces and other devices), specially trained nurses and social workers. Cerebral Palsy Epilepsy in Children Multiple Sclerosis in Children Muscular Dystrophy in Children ... Myasthenia Gravis in Children

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 5     81-100 of 101    Back | 1  | 2  | 3  | 4  | 5  | 6  | Next 20