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Myotonic Dystrophy: more books (25)

Myotonic Dystrophy (The Facts) by Peter Harper, 2009-10-26
Myotonic Dystrophy: The Facts (Oxford Medical Publications) by Peter Harper, 2002-08-08
Myotonic Dystrophy - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-10-21
Myotonic Dystrophy: Present Management, Future Therapy
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
Myotonic Dystrophy - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-18
Muscular Dystrophy Organizations: Décrypthon, Muscular Dystrophy Association, Muscular Dystrophy Campaign, Myotonic Dystrophy Foundation
Myotonic dystrophy: An entry from Thomson Gale's Gale Encyclopedia of Children's Health: Infancy through Adolescence by Tish, A.M. Davidson, Karen, M.S., C.G.C. Krajewski, 2006
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
Myotonic Dystrophy: An entry from Gale's Gale Encyclopedia of Medicine, 3rd ed. by Karen, M.S., C.G.C. Krajewski, Rebecca, Ph.D. Frey, 2006
Gale Encyclopedia of Medicine: Myotonic dystrophy by C.G.C. Karen M. Krajewski M.S., 2002-01-01
Myotonic Dystrophy Medical Guide by Qontro Medical Guides, 2008-07-09
Myotonic dystrophy: An entry from Thomson Gale's Gale Encyclopedia of Genetic Disorders, 2nd ed. by Karen, MS, CGC Krajewski, 2005
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

lists with details

Illustration:
Myotonic Muscular Dystrophy (MMD). There is another type of MMD called myotonic dystrophy Type 2. Less is known about this type of MMD.
http://www.tch-genomics.org/pat_fam-myotonic.php

Extractions: 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
Neuromuscular Disease Project - Boston Childen's Hospital - Harvard Medical Scho
muscles. myotonic dystrophy. Autosomal Dominant Diagram. Inheritance Diagram. Clinical Picture What causes myotonic dystrophy Almost
http://www.tch-genomics.org/healthcare-myotonic.php

Extractions: Enroll a Patient 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
Www.ddhealthinfo.org - Medical Care Information
myotonic dystrophy Background. Note These considerations are in addition to the normal medical care provided to an individual without myotonic dystrophy.
http://www.ddhealthinfo.org/ggrc/doc2.asp?ParentID=3181
AAEM - Patient Resources - Myotonic Dystrophy
Patient Resources myotonic dystrophy. myotonic dystrophy. myotonic dystrophy is a disorder of muscle membranes that results in muscle stiffness and weakness.
http://www.aaem.net/aaem/patientInfo/myotonic_dystrophy.cfm

Extractions: List Rental Myotonic dystrophy is a disorder of muscle membranes that results in muscle stiffness and weakness. Symptoms may become noticeable anytime from infancy to adulthood. Most cases are inherited in an autosomal (any chromosome that is not related to a persons sex) dominant fashion. There may be associated cognitive problems, diabetes, glaucoma, and frontal balding. Some drugs are useful to treat symptoms of stiffness, but there is presently no cure available. For More Information: Muscular Dystrophy Association - www.mdausa.org To Main Patient Resources Page 421 First Avenue SW, Suite 300 East
Myotonic Dystrophy
The New Health Directory, Directory, Home Health Conditions and Diseases Neurological Disorders Muscle Diseases myotonic dystrophy (3) See Also
http://www.thenewhealthfind.com/Health/ConditionsandDiseases/NeurologicalDisorde
Psychostimulants For Hypersomnia (excessive Daytime Sleepiness) In Myotonic Dyst
All rights reserved. Psychostimulants for hypersomnia (excessive daytime sleepiness) in myotonic dystrophy (Cochrane Review). Annane D, Miller R, Barnes P.
http://www.update-software.com/abstracts/AB003218.htm

Extractions: From The Cochrane Library, Issue 2, 2004 Psychostimulants for hypersomnia (excessive daytime sleepiness) in myotonic dystrophy (Cochrane Review) Annane D, Miller R, Barnes P ABSTRACT Order full review View and/or submit comments What's new in this issue Search abstracts ... Browse by Review Group A substantive amendment to this systematic review was last made on 21 August 2002. Cochrane reviews are regularly checked and updated if necessary. Background: Excessive daytime sleepiness is a common symptom of myotonic dystrophy. Psychostimulants are drugs increasingly used to treat hypersomnia in myotonic dystrophy. Objectives: To search systematically for, and combine all evidence from, randomised trials relating to the effects of psychostimulants in myotonic dystrophy patients with hypersomnia. Search strategy: We searched the Cochrane Neuromuscular Disease Trial Register (searched May 2001) for randomised trials concerning psychostimulants in myotonic dystrophy, we searched of the bibliographies of identified papers and we contacted the authors of the papers. Selection criteria: We considered all randomised or quasi randomised trials that have evaluated any type of psychostimulants (versus a placebo or no treatment) in children or adults with proven myotonic dystrophy and hypersomnia.
One Mystery Explained In Myotonic Dystrophy - From The Laboratories At Baylor Co
One mystery explained in myotonic dystrophy A misstep cells. This gene is effectively turned off in myotonic dystrophy muscle. As
http://www.fromthelab.net/vol01/is1/02sept_n2.htm

Extractions: Photos Available Upon Request One mystery explained in myotonic dystrophy A misstep in the production of a protein key to proper muscle function causes a major symptom of myotonic dystrophy, the most common form of adult onset muscular dystrophy, said researchers at Baylor College of Medicine, who published their report in the July 19, 2002, issue of the journal Molecular Cell. The glitch that Thomas A. Cooper, MD, and colleagues found starts with the genetic mutation that causes the disease - a kind of regional stuttering that occurs as a gene is copied during the process of replication. As the genetic information is translated into proteins, the process creates a "stutter" or repeats of a small region within the gene, an unusual kind of mutation that causes disease in an even more unusual way. When the gene is "turned on" and copied into RNA, the repeated sequence causes the aggregation of the RNA in the cell nucleus, disrupting the functions of some other genes. The abnormal behavior of these other genes is what causes the disease.
Neurological Disorders, Muscle Diseases, Myotonic Dystrophy
Submit Your Site to the myotonic dystrophy category. Sponsored myotonic dystrophy Sites. Submit Your Site to the myotonic dystrophy category.
http://www.iseekhealth.com/myotonic_dystrophy-2078.php
EPEC - Educating Parents Of Extra-special Children - Myotonic Dystrophy
myotonic dystrophy. myotonic dystrophy is an inherited disorder in which the muscles contract but have decreasing power to relax. myotonic dystrophy Pathology.
http://www.epeconline.com/MyotonicDystrophy.html

Extractions: needs and parents with special needs children. MYOTONIC DYSTROPHY is an inherited disorder in which the muscles contract but have decreasing power to relax. With this condition, the muscles also become weak and waste away. Myotonic dystrophy can cause mental deficiency, hair loss and cataracts. Onset of this rare disorder commonly occurs during young adulthood. However, it can occur at any age and is extremely variable in degree of severity. The myotonic dystrophy gene, found on chromosome 19, codes for a protein kinase that is found in skeletal muscle, where it likely plays a regulatory role. An unusual feature of this illness is that its symptoms usually become more severe with each successive generation. This is because mistakes in the faithful copying of the gene from one generation to the next result in the amplification of a genomic 'AGC/CTG triplet repeat', similar to that found in Huntington disease. Unaffected individuals have between 5 and 27 copies of AGC/CTG, myotonic dystrophy patients who are minimally affected have at least 50 repeats, while more severely affected patients have an expansion of up to several kilobase pairs. Other Sites For Information: International Myotonic Dystrophy Organization
Medical Genetics - Autosomal Dominant: Myotonic Dystrophy
Medical Genetics Autosomal Dominant myotonic dystrophy. Genes are inherited from our biological parents in specific ways. What is myotonic dystrophy?
http://www.musckids.com/health_library/genetics/autosom.htm

Extractions: Medical Genetics Genes are inherited from our biological parents in specific ways. One of the basic patterns of inheritance of our genes is called autosomal dominant inheritance. Autosomal dominant inheritance means that the gene is located on one of the autosomes (chromosome pairs 1 through 22). This means that males and females are equally affected, and "dominant" means that only one gene is necessary to have the trait. When a parent has a dominant trait, there is a 50 percent chance that any child they have will also inherit the trait: There are four possible combinations in the children. Two of the four, or 50 percent, have inherited the trait. The other 50 percent have not inherited the trait. These four combinations are possible every time a pregnancy occurs between these two individuals. The gender of the children (whether they are sons or daughters) does not matter. The chance is 50/50 for each pregnancy. What is myotonic dystrophy?
A To Z Encyclopedia Topic: Autosomal Dominant: Myotonic Dystrophy
Genetics Program. Autosomal Dominant myotonic dystrophy. Genes are inherited from our biological parents in specific ways. What is myotonic dystrophy?
http://web1.tch.harvard.edu/cfapps/A2ZtopicDisplay.cfm?Topic=Autosomal Dominant:
Myotonic Dystrophy
Classical myotonic dystrophy Facts. (2001). What is myotonic dystrophy? myotonic dystrophy (DM) is the most common adult form of muscular dystrophy.
http://www.genesoc.com/counseling/Outlines/myotonicdystrophy.htm

Extractions: Resources for Genetic Counselors site updated May 10, 2004 outlines links search Classical Myotonic Dystrophy Facts What is myotonic dystrophy? Myotonic dystrophy (DM) is the most common adult form of muscular dystrophy. It is a multisystem disorder that affects the muscles, as well as the eyes, heart, endocrine system, and central nervous system. Myotonic dystrophy causes muscle weakness accompanied by myotonia, a delayed relaxation of muscles after contraction. Myotonic dystrophy, also known as Steinerts disease and dystrophia myotonica, is a hereditary condition. What causes myotonic dystrophy? Myotonic dystrophy is caused by a defect in a gene called DMPK . The gene has a stretch of DNA that contains a series of CTG repeats in its sequence. Normally, the DMPK gene has less than 37 CTG repeats. However, individuals with myotonic dystrophy have more than 37 repeats, making the gene unstable. The greater the number of repeats that an individual has, the more severe the symptoms will be. Genetic anticipation is often observed in the inheritance of myotonic dystrophy. Anticipation means that the number of repeats tends to increase as the disease is passed from one generation to the next, leading to increasing severity of symptoms and decreasing age of onset. Anticipation is most commonly observed in the transmission of myotonic dystrophy from maternal genes.
Autosomal Dominant: Myotonic Dystrophy - Lucile Packard Children's Hospital
Medical Genetics. Autosomal Dominant myotonic dystrophy Genes are inherited from our biological parents in specific ways. What is myotonic dystrophy?
http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/genetics/autosom.html

Extractions: Genes are inherited from our biological parents in specific ways. One of the basic patterns of inheritance of our genes is called autosomal dominant inheritance. What is autosomal dominant inheritance? Autosomal dominant inheritance means that the gene is located on one of the autosomes (chromosome pairs 1 through 22). This means that males and females are equally affected, and "dominant" means that only one gene is necessary to have the trait. When a parent has a dominant trait, there is a 50 percent chance that any child they have will also inherit the trait: There are four possible combinations in the children. Two of the four, or 50 percent, have inherited the trait. The other 50 percent have not inherited the trait. These four combinations are possible every time a pregnancy occurs between these two individuals. The gender of the children (whether they are sons or daughters) does not matter. The chance is 50/50 for each pregnancy. What is myotonic dystrophy?
Epidemiology Of Myotonic Dystrophy
back myotonic dystrophy prevalence in the population and incidence at birth Country, Region, Prevalence, Incidence, Reference. myotonic dystrophy.
http://www.enmc.org/enmc/epidemiology/Myotonic.tab.htm

Extractions: Country Region Prevalence Incidence Reference Year Affected Total X 10-6 Years Affected Total X 10-6 Canada Alberta Monckton et al (1982) Germany Grimm (1975) Iceland Veneto Gudmundsson (1968) Ireland Northern Lynas (1957) Italy Turin Pinessi et al (1982) Veneto severe cases all cases Mostacciuolo et al (1987b) Mostacciuolo et al (1987b) Japan Kumamoto Araki et al (1987) Okinawa Nakagawa et al (1991) Shimane Takeshita et al (1977) Norway 573 762 (children)
CHAPTER I Myotonic Dystrophy And Potential Molecular Therapeutic Approaches Intr
CHAPTER I myotonic dystrophy and potential molecular therapeutic approaches Introduction to muscular dystrophies. myotonic dystrophy (DM). Autosomal dominant.
http://www.theses.ulaval.ca/2003/21404/ch01.html

Extractions: 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.
RNA-based Gene Therapies For Myotonic Dystrophy Type 1
Translate this page RNA-based gene therapies for myotonic dystrophy type 1. Suivant. RNA-based gene therapies for myotonic dystrophy type 1. Langlois
http://www.theses.ulaval.ca/2003/21404/21404.html

Extractions: RNA-based gene therapies for myotonic dystrophy type 1 Langlois, Marc-André Philosophiæ doctor (Ph.D.) Université Laval FACULTÉ DE MÉDECINE Doctorat en biologie cellulaire et moléculaire Directeur(trice) de recherche : Puymirat, Jack Co directeur(trice) de recherche : Rossi, John J. Résumé Abstract «Le peu que je sais, - Sacha Guitry Table des matières Liste des tableaux Table 1: Summary of most frequent muscular dystrophies Table 2: Myotonic dystrophy clinical symptoms in adults Table 3: Trinucleotide repeat diseases Table 4: Critical CTG expansion thresholds for myotonic dystrophy onset and symptoms ... Table 6 Properties of viral vector systems
Medical Genetics - Autosomal Dominant: Myotonic Dystrophy
Autosomal Dominant myotonic dystrophy Genes are inherited from our biological parents in specific ways. What is myotonic dystrophy?
http://www.chkd.org/Genetics/autosom.asp

Extractions: Adolescent Medicine Allergy/Immunology Anesthesiology Arthritis Burns Cardiology Craniofacial Dental Medicine Dermatology Developmental Peds Diabetes Digestive Ear, Nose, Throat Genetics Gastroenterology Growth Hematology High Risk Newborn High Risk Pregnancy Infectious Disease Mental Health Neonatology Nephrology Neurology Normal Newborn Normal Pregnancy Oncology Ophthalmology Orthopedics Otolaryngology Pediatric Intensive Care Pediatric Surgery Pediatrics Physical Medicine Plastic Surgery Respiratory/Pulmonology Rheumatology Safety Surgery Terminal Transplant Urology Site Search Autosomal dominant inheritance means that the gene is located on one of the autosomes (chromosome pairs 1 through 22). This means that males and females are equally affected, and dominant means that only one gene is necessary to have the trait. When a parent has a dominant trait, there is a 50 percent chance that any child they have will also inherit the trait: There are four possible combinations in the children. Two of the four, or 50 percent, have inherited the trait. The other 50 percent have not inherited the trait. These four combinations are possible every time a pregnancy occurs between these two individuals. The gender of the children (whether they are sons or daughters) does not matter. The chance is 50/50 for each pregnancy.
Health, Conditions And Diseases, Neurological Disorders, Muscle Diseases: Myoton
GeneClinics A summary of myotonic dystrophy, the diagnosis, clinical description, differential diagnosis, management, genetic counseling and resources.
http://www.combose.com/Health/Conditions_and_Diseases/Neurological_Disorders/Mus

Extractions: Related links of interest: An autosomal dominant neuromuscular disorder which usually presents in early adulthood, characterized by progressive muscular atrophy (most frequently involving the hands, forearms, and face), myotonia, frontal baldness, lenticular opacities, and testicular atrophy. Cardiac conduction abnormalities, diaphragmatic weakness, and mild mental retardation may also occur. Help build the largest human-edited directory on the web.
Clinical Trial: Myotonic Dystrophy And Facioscapulohumeral Muscular Dystrophy Re
myotonic dystrophy and Facioscapulohumeral Muscular Dystrophy Registry. Condition. myotonic dystrophy Muscular Dystrophy, Facioscapulohumeral.
http://www.clinicaltrials.gov/ct/gui/show/NCT00082108?order=2
UCHSC DNA Diagnostic Laboratory-Myotonic Dystrophy
UCHSC DNA Diagnostic Laboratory DNA Analysis for myotonic dystrophy. General Information The direct mutation analysis detects the most common myotonic
http://www.uchsc.edu/sm/peds/dnalab/dm.htm

Extractions: General Information: The direct mutation analysis detects the most common myotonic dystrophy mutation which accounts for 98% of all myotonic dystrophy mutations. Methodology: This test includes preparation of DNA from peripheral blood, direct or cultured cells from amniotic fluid or chorionic villus sampling, in addition to southern blot and/or PCR based analysis for the myotonic dystrophy mutation. PCR is performed pursuant to a license agreement with Roche Molecular Systems, Inc. Uses: Prenatal diagnosis of myotonic dystrophy, diagnosis of myotonic dystrophy, identification of presymptomatic and nonpenetrant individuals. Indications: Positive family history of myotonic dystrophy, unresolved diagnosis suggestive of myotonic dystrophy based on clinical or laboratory findings, neonatal presentation consistent with congenital myotonic dystrophy. Specimen Requirements: Please see instructions for shipping and handling specimens Turnaround Time: 2-4 weeks (time required for culture of tissue specimens not included.) Cases are prioritized on an individual basis.

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