61. 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

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.

62. 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

Home Overview Links News ... OUR INVESTIGATORS Healthcare Provider Info DMD OMIM BMD OMIM ... Link to Diagnostic Text Book Chapters 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 Genetic Alteration: Dystrophia Myotonica Protein Kinase Gene (DMPK) on Chromosome 19: CTG trinucleotide repeat Incidence: 1 in 20,000 people are affected Onset: congenital through adulthood Muscles Affected: Voluntary (distal) muscles of limbs and the neck, facial, and diaphragm muscles,intercostal muscles, possibly the cardiac muscle, birthing muscles. Other Symptoms: cataracts, diabetes, complications with anesthesia, potential for mental retardation

63. 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

64. 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

Patient Resources - Myotonic Dystrophy Membership Directory Practice Issues / Advocacy Employment/Training Career Center Fellowship Listing EDX Courses Training Links ... List Rental Myotonic Dystrophy 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 person’s 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 Rochester, MN 55902 Telephone: (507) 288-0100 Fax: (507) 288-1225 E-mail: aaem@aaem.net

65. 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

Directory Home Health Conditions and Diseases Neurological Disorders ... Muscle Diseases : Myotonic Dystrophy (3) See Also: Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Neurological Disorders: Muscle Diseases: Muscular Dystrophies Health: Conditions and Diseases: Rare Disorders The CaF Directory - An article about myotonic dystrophy, its characteristics and inheritance patterns. GeneClinics - A summary of myotonic dystrophy, the diagnosis, clinical description, differential diagnosis, management, genetic counseling and resources. NCBI: Genes and Diseases - A discussion about myotonic dystrophy, when it occurs, symptoms and the gene. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Quick Links designer eyeglasses frames ephedrine free hydroxycut Hematology prescription glasses ... heart murmurs The New Health Directory Site Map Privacy Contact Advertise ... Health Directory

66. 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

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.

67. 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

Sept. 3, 2002 Current Issue Past Issues About Us Public Affairs ... Baylor Home Sign up for free newsletter: Email Subscribe Unsubscribe Office of Public Affairs Baylor College of Medicine One Baylor Plaza - 176B Houston, TX 77030 Tel: (713) 798-4712 Fax: (713) 798-3692 email: pa@bcm.tmc.edu 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.

68. 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

Home About Us Contact Submit Your Site Search : Home Health Conditions and Diseases Neurological Disorders ... Myotonic Dystrophy More Myotonic Dystrophy Categories: Submit Your Site to the Myotonic Dystrophy category Sponsored Myotonic Dystrophy Sites Medical Search Engines, Healthcare Resources, Find Disease Specific Clinical Information on Diseases using Search Engines Designed for that purpose. Buy Diseases Books At Amazon.com and Save! Would you like to save on Diseases Books at Amazon and other stores? Links to compare prices at BookSellersNow.com! Our site continually proves that online shopping can be fun! GeneClinics - A summary of myotonic dystrophy, the diagnosis, clinical description, differential diagnosis, management, genetic counseling and resources. NCBI: Genes and Diseases - A discussion about myotonic dystrophy, when it occurs, symptoms and the gene. The CaF Directory - An article about myotonic dystrophy, its characteristics and inheritance patterns. Submit Your Site to the Myotonic Dystrophy category Sponsored Results Health Spotlight List Your Site Here Today!

69. 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

Educating Parents of Extra-special Children (EPEC) A resource of information for adults with special needs and parents with special needs children. Myotonic Dystrophy 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 Welcome to GeneTests-GeneClinics National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members Logan Paige Foundation For Myotonic Dystrophy ... Myotonic dystrophy: Pathology A Division of

70. 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

Home About Us Departments Send an e-Card ... Your Hospital Visit 171 Ashley Ave. Charleston, SC 29425 800-424-MUSC Print Version Medical Genetics Autosomal Dominant: Myotonic Dystrophy 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?

71. 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:

72. 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

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 Steinert’s 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.

73. 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

Genetics Clinic Metabolic/Biochemical Genetics Clinic Medical Geneticists Medical Genetics ... Packard Children’s Hospital Pediatrician Receives E. Mead Johnson Award For Pediatric Research Medical Genetics Autosomal Dominant: Myotonic Dystrophy 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?

74. 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

back Myotonic dystrophy : prevalence in the population and incidence at birth 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) Switzerland Klein (1958) Todorov et al (1970) U.S.A. Minnesota Kurland (1958) Yugoslavia Ljubljana Zidar (1990), see also Faganel et al (1977) * refers to heterozygote frequency not actual affecteds. = ascertainment probability Note : References: Araki S, Uchino M, Kumamoto T. Prevalence studies of multiple sclerosis, myasthenia gravis, and myopathies in Kumamoto District, Japan. Neuroepidemiology Chen K-M, Brody JA, Kurland LT. Patterns of neurologic diseases on Guam. Arch Neurol Faganel J, Lavric A, Srsen V, Tivadar I. Degenerativne zivcano-misicne bolesti u Sloveniji. Neurologija (Yugoslavia) 1977;

75. 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

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.

76. 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

RNA-based gene therapies for myotonic dystrophy type 1 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 Dédicace «Le peu que je sais, - Sacha Guitry Table des matières RÉSUMÉ ABSTRACT AVANT-PROPOS ACKNOWLEDGEMENTS ... 2.10. Figures 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

77. 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

More Health Information 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 For a doctor who specializes in this topic, click here. Autosomal Dominant: Myotonic Dystrophy 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.

78. 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

Top Health Conditions and Diseases Neurological Disorders ... Myotonic Dystrophy Related links of interest: Health:Conditions and Diseases:Genetic Disorders Health:Conditions and Diseases:Neurological Disorders:Muscle Diseases:Muscular Dystrophies Health:Conditions and Diseases:Rare Disorders GeneClinics - A summary of myotonic dystrophy, the diagnosis, clinical description, differential diagnosis, management, genetic counseling and resources. NCBI: Genes and Diseases - A discussion about myotonic dystrophy, when it occurs, symptoms and the gene. The CaF Directory - An article about myotonic dystrophy, its characteristics and inheritance patterns. 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.

79. 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

80. 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

UCHSC DNA Diagnostic Laboratory DNA Analysis for Myotonic Dystrophy 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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