Medical Resources for Myotonic Dystrophy
Myotonic Dystrophy Fact Sheets - Understanding the Science
The Genetics of Myotonic Dystrophy
Cause of Myotonic Dystrophy Type 1
Cause of Myotonic Dystrophy Type 2
Commonalities and Differences between DM1 and DM2
Molecular Basis of Myotonic Dystrophy: RNA Pathogenesis
Molecular Basis of Myotonic Dystrophy: Somatic Mosaicism
Molecular Basis of Myotonic Dystrophy: Anticipation
Myotonic Dystrophy Fact Sheets - Diagnosis, Symptoms, and Treatment
Skeletal Muscle Function Issues
Central Nervous System Problems
Reproductive and Endocrine Issues
Anesthesia Guidelines for Myotonic Dystrophy
Books
Myotonic Dystrophy – The Facts, by Prof. Peter Harper, published by Oxford University Press in 2002. A hundred-page book written for families living with myotonic dystrophy, written in easy-to-understand language. A good place to begin educating yourself. Available on-line at oup.org/usa or amazon.com. Learn more
Myotonic Dystrophy – Present Management, Future Therapy, edited by Prof. Peter Harper, published by Oxford University Press in 2004. A 240 page book written by DM experts around the world, geared to medical professionals. Highly technical descriptions; great book to own in order to take to medical appointments as specific symptoms arise. Learn more
Myotonic Dystrophy, 3rd Edition, by Prof. Peter Harper, published by W.B. Saunders in 2001. A 400-page book on DM written for medical professionals. Highly technical descriptions. Next edition expected to be published in 2009 to mark 100th anniversary of the discovery of DM by Dr. Steinert in Germany.
Disabled and Challenged: Reach for Your Dreams, by Terry Scott Cohen and Barry M. Cohen, published by WishingUwell Publishing, 2005. A 130-page book written by a young adult with myotonic dystrophy along with his father, a psychologist. Available on-line at Amazon.com.
Genetic Instabilities and Neurological Diseases, 2nd ed., by Robert D. Wells and Tetsuo Ashizawa, published by Elsevier Academic Press, 2006. Highly technical descriptions.
Research Journals
PubMed
PubMed is a searchable database of published scientific research articles maintained by the National Library of Medicine.This site is designed for researchers and clinicians and contains journal articles about research in myotonic dystrophy. View their online tutorials on the use of the site. Visitors can search terms such as myotonic dystrophy, Steinert’s disease, proximal myotonic myopathy, and PROMM to find articles about research into myotonic dystrophy.
www.ncbi.nlm.nih.gov/sites/entrez/
Governmental Agencies
Centers for Disease Control and Prevention (CDC)
The CDC is an organization that is committed to achieving true improvements in people’s health. CDC applies research and findings to improve people’s daily lives and responds to health emergencies—something that distinguishes CDC from its peer agencies. Working with states and other partners, CDC provides a system of health surveillance to monitor and prevent disease outbreaks (including bioterrorism), implement disease prevention strategies, and maintain national health statistics. CDC also guards against international disease transmission, with personnel stationed in more than 25 foreign countries.
www.cdc.govNational Center for Biotechnology Information (NCBI)
NCBI is a national resource for molecular biology information that creates public databases, conducts research in computational biology, develops software tools for analyzing genome data, and disseminates biomedical information - all for the better understanding of molecular processes affecting human health and disease. Learn more about myotonic dystrophy
www.ncbi.nlm.nih.gov/National Institutes of Health (NIH)
NIH is a part of the U.S. Department of Health and Human Services, the primary Federal agency for conducting and supporting medical reseaerch. Helping to lead the way toward important medical discoveries that improve people's health and save lives, NIH scientists investigate ways to prevent disease as well as the causes, treatments, and even cures for common and rare diseases.
www.nih.gov
ClinicalTrials.gov a searchable listing of clinical trials conducted in the United States and around the world.
ClinicalTrials.gov
Genetics Home Reference, a guide to understanding genetic conditions such as myotonic dystrophy.
www.ghr.nlm.nih.gov/ View their medical glossary.
GeneTests - a publicly-funded medical genetics information resource developed for physicians, other healthcare providers, and researchers.
www.genetests.org
National Organization of Rare Disorders (NORD)
NORD is an organization that provides information on rare diseases
www.rarediseases.org/
Online Mendelian Inheritance in Man (OMIM)
OMIM is a database of human genes and genetic disorders
www.ncbi.nlm.nih.gov/sites/entrez?db=OMIMTreat-NMD
TREAT-NMD is an international initiative bringing together some of the world's leading neuromuscular specialists in a pan-European 'network of excellence' aimed at improving treatment and finding cures for patients with neuromuscular disorders.
http://www.treat-nmd.eu
Resources for Myotonic Dystrophy
The Jack Puymirat Lab
Dr. Jack Pymirat's research lab for myotonic dystrophy, which contains information about the disease.
www.jpuymiratlab.crchul.ulaval.ca/index.htm
Muscular Dystrophy Association (MDA)
The MDA is a voluntary health agency -- a dedicated partnership between scientists and concerned citizens aimed at conquering neuromuscular diseases that affect more than a million Americans.
www.mdausa.orgMyotonic Dystrophy Foundation (MDF)
The MDF is a patient advocacy group dedicated to leading and mobilizing resources toward effective management, treatment and a cure for myotonic dystrophy. The MDF also provides an online support community where families living with myotonic dystrophy can connect and learn from one another. www.community.myotonic.com
www.myotonic.comMyotonic Dystrophy Support Group (MDSGUK)
The MDSGUK is a Myotonic Dystrophy Support Group with the goal to improve the quality of life for families and individuals with myotonic dystrophy.
http://www.mdsguk.org/Scottish Muscle Network
The Scottish Muscle Network provides information on the muscular dystrophies including myotonic dystrophy. View their clinical care card and guidelines for the use of anesthesia.
www.gla.ac.uk/muscle/
Other Neuromuscluar Disease Organizations
Parent Project Muscular Dystrophy (PPMD)
Parent Project Muscular Dystrophy’s mission is to improve the treatment, quality of life, and long-term outlook for all individuals affected by Duchenne muscular dystrophy (Duchenne) through research, advocacy, education, and compassion.
www.parentprojectmd.orgCure CMD
Cure CMD’s mission is to bring research, treatments and in the future, a cure for Congenital Muscular Dystrophies. Cure CMD will achieve this mission by working globally together with dedicated parent, government and research advocates. By focusing on this mission, Cure CMD will find and fund high potential research and clinical trials. Success will be determined by clinical applications that improve the lives of those afflicted with CMD’s.
www.curecmd.orgMyotonia Congenita Project
www.myotoniacongenital.org