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         Myotonic Dystrophy:     more books (25)
  1. Myotonic Dystrophy (The Facts) by Peter Harper, 2009-10-26
  2. Myotonic Dystrophy: The Facts (Oxford Medical Publications) by Peter Harper, 2002-08-08
  3. Myotonic Dystrophy - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-10-21
  4. Myotonic Dystrophy: Present Management, Future Therapy
  5. Reading and spelling impairments in children and adolescents with infantile myotonic dystrophy [An article from: Journal of Neurolinguistics] by D. Cohen, M. Plaza, et all 2006-11-01
  6. Myotonic Dystrophy - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-18
  7. Muscular Dystrophy Organizations: Décrypthon, Muscular Dystrophy Association, Muscular Dystrophy Campaign, Myotonic Dystrophy Foundation
  8. Myotonic dystrophy: An entry from Thomson Gale's <i>Gale Encyclopedia of Children's Health: Infancy through Adolescence</i> by Tish, A.M. Davidson, Karen, M.S., C.G.C. Krajewski, 2006
  9. Warming up improves speech production in patients with adult onset myotonic dystrophy [An article from: Journal of Communication Disorders] by B.J.M. de Swart, B.G.M. van Engelen, et all 2007-05-01
  10. Myotonic Dystrophy: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by Karen, M.S., C.G.C. Krajewski, Rebecca, Ph.D. Frey, 2006
  11. Gale Encyclopedia of Medicine: Myotonic dystrophy by C.G.C. Karen M. Krajewski M.S., 2002-01-01
  12. Myotonic Dystrophy Medical Guide by Qontro Medical Guides, 2008-07-09
  13. Myotonic dystrophy: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Karen, MS, CGC Krajewski, 2005
  14. CTG repeat number in the nonaffected allele of myotonic dystrophy patients is not critical for disease expression.(Brief Communication): An article from: Human Biology by M. Cipollaro, U. Galderisi, et all 1997-12-01

81. Dystrophy, Myotonic
myotonic dystrophy (DM) is an inherited disorder involving the muscles, vision, and endocrine glands.
http://webcenter.health.webmd.netscape.com/hw/brain_nervous_system/nord357.asp
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... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... For a Complete Report Dystrophy, Myotonic Important It is possible that the main title of the report Dystrophy, Myotonic is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms
  • Curschmann-Batten-Steinert syndrome DM myotonia atrophica Steinert disease dystrophia myotonia
Disorder Subdivisions
  • myotonic dystrophy type 1 (DM1) myotonic dystrophy type 2 (DM2)
General Discussion Myotonic dystrophy type 1 (DM1) is an autosomal dominant, multi-system disorder that affects both smooth and skeletal muscles and may affect the central nervous system, heart, eyes, and/or endocrine systems. There are three types of DM1 that are distinguished by the severity of disease and age of onset. Mild DM1 is characterized by cataracts and sustained muscle contractions (myotonia). Classic DM1 is characterized by muscle weakness and wasting (atrophy), cataracts, myotonia and abnormalities in the heart’s conduction of electrical impulses. Congenital DM1 is characterized by muscle weakness (hypotonia), difficulty breathing, mental retardation and early death. DM1 is caused by an abnormality in the DMPK gene. Affected individuals have an increased number of copies of a portion of this gene called CTG. The greater the number of repeated copies of CTG, the more severe the disorder.

82. TheFetus.net - Myotonic Dystrophy-Raúl Martínez, José G. Andrade
Comprehensive guide to prenatal ultrasound. Covers all aspects of sonography in pregnancy and the fetus.
http://www.thefetus.net/page.php?id=1157

83. Caremark.com
myotonic dystrophy is a progressive disease in which the muscles are weak and A severe form of DM, congenital myotonic dystrophy, may appear in newborns
http://www.caremark.com/wps/portal/_s.155/5522/.cmd/ad/.pm/-/.c/1703/.ce/5535/.p

84. CHAPTER I Myotonic Dystrophy And Potential Molecular Therapeutic Approaches Intr
myotonic dystrophy is one exception where distal muscle groups are altered but the effects are just as severe. While most forms of muscular dystrophies are
http://www.theses.ulaval.ca/2003/21404/ch01.html
CHAPTER I Myotonic dystrophy and potential molecular therapeutic approaches Introduction to muscular dystrophies
CHAPTER I Myotonic dystrophy and potential molecular therapeutic approaches Introduction to muscular dystrophies
The molecular, metabolic or neurological defects responsible for myopathies alter various aspects of muscle structure, metabolism, function and innervation. Table 1 summarizes some of the most frequent muscular dystrophies and the defect responsible for them. While some myopathies occur spontaneously, like in one third of DMD patients for example, most muscular dystrophies have an important hereditary component. Although prenatal genetic testing is now becoming widely available for couples with a familial background of muscular dystrophy, transmission of a recessive form often comes from unsuspecting parents with no prior documented cases of the disease in either family. Because of the complexity of the defects that cause the muscular dystrophies and the large number of muscle groups that are affected, there are no definite cures yet available today. Table 1: Summary of most frequent muscular dystrophies Disease Inheritance Defect Becker and Duchenne muscular dystrophy (DMD) Two thirds of cases are X-linked recessive. One third are caused by new mutations.

85. UpToDate Emery-Dreifuss Muscular Dystrophy And Myotonic Dystrophy
myotonic dystrophy type 1 (DM1); myotonic dystrophy type 2 (DM2), also known as proximal myotonic myopathy (PROMM); Distal dystrophies; EmeryDreifuss
http://patients.uptodate.com/topic.asp?file=ped_neur/22284

86. UNSW Embryology-OMIM MYOTONIC DYSTROPHY
myotonic dystrophy is an autosomal dominant disorder characterized by myotonia, Harper (1989) provided a monograph on myotonic dystrophy that has been
http://embryology.med.unsw.edu.au/OMIMfind/skmus/OMIM-310200.htm
UNSW Embryology
MUSCULOSKELETAL DEVELOPMENT Embryology Home Page
MYOTONIC DYSTROPHY
Select Entry from OMIM
Online Mendelian Inheritance in Man (Internet Link) This page is for computers without external internet access. Back to UNSW Embryology-Musculoskeletal Notes List of OMIM search results "muscular dystrophy"
*160900 DYSTROPHIA MYOTONICA; DMPK
Alternative titles; symbols
DYSTROPHIA MYOTONICA; DM
MYOTONIC DYSTROPHY
STEINERT DISEASE
DM-KINASE, INCLUDED; DMK, INCLUDED
DM PROTEIN KINASE, INCLUDED
MYOTONIN-PROTEIN KINASE, INCLUDED
MYOTONIC DYSTROPHY PROTEIN KINASE, INCLUDED; MDPK, INCLUDED
TABLE OF CONTENTS

87. Neurology Department Of Yale School Of Medicine
myotonic dystrophy is an inherited disorder of muscle weakness and wasting Clinically myotonic dystrophy is classified as a muscular dystrophy although
http://info.med.yale.edu/neurol/programs/neuromuscular/myontonic_dystrophy.html
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Yale University
School of Medicine
Department of Neurology
P.O. Box 208018
New Haven, CT
Clinical Programs Index
Neuromuscular Disorders
Myotonic Dystrophy History Clinical Presentation Epidemiology
Myotonic dystrophy occurs in one per 8,000 live births. It is among the more common inherited neurological disorders and occurs equally in men and women. The disease most often affects members of the same family, often becoming more severe with successive generations - this is most true when the disorder is passed on from the mother, when passed on from the father the disease may become less severe. There are rare sporadic cases of myotonic dystrophy. Clinical Features
Myotonic dystrophy has effects throughout most of the body. Although chiefly characterized by muscle weakness and wasting there are associated cardiac, hormonal, respiratory, digestive and mental effects. Congenital myotonic dystrophy has typical features present at birth. These include extremely decreased tone, shark mouth appearance due to facial weakness, a feeble cry, feeding difficulties, failure to thrive and club feet. The usual course is one of disability and severe mental retardation. Almost all children with congenital myotonic dystrophy are born to mothers with myotonic dystrophy and display a substantial increase in the size of the gene defect.

88. Internet Scientific Publications, LLC.
myotonic dystrophy is a genetic disorder characterised by delayed muscle A 20 year old female, known with myotonic dystrophy required extensive dental
http://www.ispub.com/ostia/index.php?xmlFilePath=journals/ija/vol4n2/remi.xml

89. Gale Encyclopedia Of Medicine: Myotonic Dystrophy
Full text of the article, myotonic dystrophy from Gale Encyclopedia of Medicine, a publication in the field of Health Fitness, is provided free of
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Definition
Myotonic dystrophy is a progressive disease that keeps affected muscles from relaxing once they have been contracted or tightened.
Description
Myotonic dystrophy (DM), also called dystrophia myotonica, myotonia atrophica, or Steinert's disease, is a common form of muscular dystrophy. It affects more than 30,000 people in the United States. DM is an inherited disease, affecting men and women approximately equally. Symptoms may appear at any time from childhood to adulthood. DM causes general weakness, usually beginning in the muscles of the hands, feet, neck, or face. It slowly progresses to involve other muscle groups, including the heart. DM affects a wide variety of other organ systems as well.

90. Arch Neurol -- Abstract: Musculoskeletal Pain In Patients With Myotonic Dystroph
Arch Neurol. 2004;6119381942. Background myotonic dystrophy type 2/proximal myotonic myopathy (DM2/PROMM) is an autosomal dominant multisystem disorder.
http://archneur.ama-assn.org/cgi/content/abstract/61/12/1938
Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress
Vol. 61 No. 12, December 2004 Featured Link E-mail Alerts Original Contribution Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Related articles in this issue Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by George A Sommer C Contact me when this article is cited Topic Collections Neuromuscular diseases Pain Topic Collection Alerts
Musculoskeletal Pain in Patients With Myotonic Dystrophy Type 2 Annette George, MD Christiane Schneider-Gold, MD Sandra Zier, MD Karlheinz Reiners, MD Claudia Sommer, MD
Arch Neurol. Myotonic dystrophy type 2/proximal myotonic myopathy (DM2/PROMM) is an autosomal dominant multisystem disorder. Musculoskeletal pain is one of its frequent symptoms but also occurs in other chronic noninflammatory muscle disorders (OMD).

91. MedlinePlus Medical Encyclopedia: Muscular Dystrophy
facioscapulohumeral muscular dystrophy; limbgirdle muscular dystrophy; Emery-Dreifuss muscular dystrophy; myotonic dystrophy; myotonia congenita
http://www.nlm.nih.gov/medlineplus/ency/article/001190.htm
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Superficial anterior muscles Alternative names Return to top Inherited myopathy; MD Definition Return to top Muscular dystrophy is a group of disorders characterized by progressive muscle weakness and loss of muscle tissue. Causes, incidence, and risk factors Return to top 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. Lambert-Eaton syndrome and myasthenia gravis also have symptoms that may be similar to early stages of some types of muscular dystrophies, so these disorders must be ruled out when muscular dystrophies are diagnosed.

92. Science -- Sign In
Reconstructing myotonic dystrophy. Stephen J. Tapscott and Charles A. Thornton. The genetic mutation in myotonic dystrophy type I (DM1) was identified
http://www.sciencemag.org/cgi/content/summary/293/5531/816
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93. Modafinil ( Provigil ) In The Treatment Of Myotonic Dystrophy
enhances mood in patients with myotonic dystrophy by MacDonald JR, Hill JD, Tarnopolsky MA. Department of Medicine, McMaster University Medical Center,
http://www.modafinil.com/myotonic-dystrophy.html
Modafinil reduces excessive somnolence and
enhances mood in patients with myotonic dystrophy
by
MacDonald JR, Hill JD, Tarnopolsky MA.
Department of Medicine,
McMaster University Medical Center,
Hamilton, and Draxis Health Inc.,
Mississauga, Ontario, Canada.
Neurology 2002 Dec 24;59(12):1876-80
ABSTRACT
O BJECTIVE: To evaluate the potential of modafinil in reducing excessive daytime somnolence (EDS) and enhancing indexes of quality of life and mood in patients with myotonic dystrophy (DM). METHODS: Forty patients with DM were randomized to receive modafinil and placebo for 14 days each, using a double-blind, cross-over design. Before and after each trial, subjects completed handgrip strength testing, spirometry, and quality-of-life measures (RAND). On days 7 and 14, each subject completed the Epworth Sleepiness Scale (ESS), the Stanford Sleepiness Scale (SSS), and the Profile of Mood States (POMS). RESULTS: ESS scores were lower while taking modafinil (mean 248 mm; 95% confidence limit 220 to 276 mm) as compared with placebo (309 mm; 281 to 336 mm) (p < 0.001). Mean SSS scores were also lower during the modafinil trial (3.05; 2.77 to 3.33) than during the placebo trial (3.45; 3.18 to 3.71) (p

94. Myotonic Muscular Dystrophy - Definition Of Myotonic Muscular Dystrophy By The F
Definition of myotonic muscular dystrophy in the Online Dictionary. Meaning of myotonic muscular dystrophy. What does myotonic muscular dystrophy mean?
http://www.thefreedictionary.com/myotonic muscular dystrophy
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Cite / link Email Feedback Thesaurus Legend: Synonyms Related Words Antonyms Noun myotonic muscular dystrophy - a severe form of muscular dystrophy marked by generalized weakness and muscular wasting that affects the face and feet and hands and neck; difficult speech and difficulty with the hands that spreads to the arms and shoulders and legs and hips; the onset can be any time from birth to middle age and the progression is slow; inheritance is autosomal dominant myotonia atrophica myotonic dystrophy Steinert's disease dystrophy ... muscular dystrophy - any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles Mentioned in References in classic literature No references found No references found Dictionary/thesaurus browser Full browser Myotomic myotomy myotonia myotonia atrophica ... myotonic dystrophy myotonic muscular dystrophy Myra Myrcia Myrciaria Myrciaria cauliflora ... myotonic dystrophy myotonic muscular dystrophy myotonoid myotonus myotony myotrophy ... Myozai District, Tokushima

95. First Reliable Diagnostic Test For Myotonic Muscular Dystrophy Type 2
February 27, 2003 Researchers at the University of Minnesota Medical School s Muscular dystrophy Center have developed the first reliable diagnostic test
http://www.brightsurf.com/news/feb_03/EDU_news_022703_d.html
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First reliable diagnostic test for myotonic muscular dystrophy type 2e
Feb. 27, 2003
DM2 more common than previously thought
MINNEAPOLIS / ST. PAUL Researchers at the University of Minnesota Medical School's Muscular Dystrophy Center have developed the first reliable diagnostic test for myotonic muscular dystrophy type 2 (DM2), leading to the accurate determination of the disease's clinical and molecular features. Initial results indicate that DM2 is much more common than previously thought, and may be one of the more common forms of muscular dystrophy. The findings will be reported in the Feb. 26 issue of Neurology.
Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, affects the eyes, heart, hormonal systems, and blood, in addition to causing muscular dystrophy and involuntary muscle stiffness (myotonia). Prior to this research, most cases of myotonic dystrophy were thought to be the more severe form, myotonic dystrophy type 1 (DM1), which occurs in about one of every 7,000 people worldwide. Earlier estimates that DM2 occurs at 2 percent of the rate for DM1 have now been significantly revised; the frequency of DM2 may equal that of DM1 in some populations.
"Until now, myotonic dystrophy type 2 has been difficult to diagnose," said John W. Day, M.D., Ph.D., professor, Department of Neurology and the Institute of Human Genetics. "The DNA alteration that causes DM2 is extremely unstable, and dramatically varies in size within blood of an affected individual. Because of this marked range of sizes in each affected individual, the genetic change has been very difficult to detect." The new diagnostic method amplifies a portion of the mutation in DNA from a patient's blood, and then uses a second step to verify that it truly is a DM2 mutation.

96. Dystrophy, Myotonic Definition - Medical Dictionary Definitions Of Popular Medic
Online Medical Dictionary and glossary with medical definitions.
http://www.medterms.com/script/main/art.asp?articlekey=3162

97. Illustration:
myotonic Muscular dystrophy (MMD) is a rather common form of inherited muscle disease The exception to this is congenital myotonic muscular dystrophy,
http://www.chb-genomics.org/pat_fam-myotonic.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 Myotonic Muscular Dystrophy
(MMD) Inheritance: Autosomal Dominant
Genetic Alteration: Dystrophy Protein Kinase Gene (DMPK) on Chromosome 19. There is a CTG repeat in the DNA of this gene, which makes the gene longer than it is supposed to be.
Incidence: 1 in 20,000 people are affected
Onset: congenital through adulthood
Muscles Affected: Voluntary muscles of limbs (the most distal muscles) and the neck, facial, and diaphragm muscles, and the muscles between the ribs.
A.K.A.: May also be known as Steinert's disease
Muscular dystrophies are genetic disorders that involve progressive muscle wasting, which actually changes the appearance of the muscle at the microscopic level. The muscle degenerates (atrophies) over time, which leads to muscle weakness.

98. Researchers Shed Light On Myotonic Muscular Dystrophy 
Beth Israel Deaconess Medical Center researchers discovered that the single genetic flaw of MMD can disturb many proteins in cells, causing many varied
http://www.researchmatters.harvard.edu/story.php?article_id=734

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