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REHABILITATION
Myotonic dystrophy is a progressive disorder that affects multiple body systems. Currently there is no cure for myotonic dystrophy (DM1, DM2), and therefore managing the disease symptoms is essential to enhancing quality of life for individuals living with DM. In addition to physicians, physical therapists, occupational therapists and speech therapists are essential members ofFIND A DOCTOR
One of the requests Myotonic gets most frequently from community members is for referrals to doctors, therapists and other medical professionals who understand myotonic dystrophy (DM) and have experience in treating DM patients. To meet that need, Myotonic offers the Find a Doctor Program, a constantly-expanding, community-generated list that features clinicians based in MYOTONIC DYSTROPHY ANESTHESIA GUIDELINES Myotonic Dystrophy Anesthesia Guidelines. Please know that the use of anesthesia raises special risks to those living with myotonic dystrophy (DM), as the disease results in heightened sensitivity to sedatives and analgesics. Pay particular attention to the serious complications that can arise in the post-anesthesia period, when riskof
MDF COMMUNITY FORUM UPDATE MDF is proud to announce Maya Gosztyla as one of the MDF’s 2021 Fellowship Recipients! Maya Gosztyla’s project “Investigating RNA-binding Proteins and RNA Localization in cDM1 Organoids” plans to search for new RBPs, beyond those currently known, that are dysregulated in DM1. EXERCISE GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY EXERCISE GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY MYOTONIC DYSTROPHY FOUNDATION www.myotonic.org 1 This guide for exercise should be used with recommendations from your health care providers. All individuals should talk to their health care providers before starting a new exercise program. NUTRITION GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY Q NUTRITION GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY MYOTONIC DYSTROPHY FOUNDATION www.myotonic.org 1 Getting Started on a Healthy Diet Here are some strategies and tips to consider when you firstbegin
ANESTHETIC MANAGEMENT OF PATIENTS WITH MYOTONIC DYSTROPHY 1 Anesthetic Risks, as detailed in the Guidelines, result from DM effects that include: • Cardiac conduction defects and potentially fatal arrhythmias • Ventilatory insufficiency and poor airway protection • Gastrointestinal dysmotility that frequently results in pseudo-obstruction • Erratic responses to succinylcholine - though DM does not increase true malignant hyperthermia OCCUPATIONAL THERAPY SUGGESTIONS FOR THE … MDF | TOOLKIT 81 OCCUPATIONAL THERAPY SUGGESTIONS FOR THE MANAGEMENT OF A MYOTONIC DYSTROPHY PATIENT Cynthia Gagnon, erg, Ph.D. Professeur adjoint, École de réadaptation, Faculté de médecine et des sciences de la santé MYOTONIC DYSTROPHY TESTING & DIAGNOSIS Diagnosis of myotonic dystrophy is not difficult once the disorder is suspected. Your path to a correct myotonic dystrophy (DM) diagnosis can be long and complex, as medical professionals see these cases so infrequently that they often aren’t familiar with DM. WHAT IS THE PROGNOSIS FOR MYOTONIC DYSTROPHY DIAGNOSES Myotonic dystrophy is a progressive or degenerative disease. Symptoms tend to worsen gradually over several decades. While no treatment exists that slows the progression of myotonic dystrophy, management of its symptoms can greatly improve patient quality of life. Early intervention can reduce or avert complications that sometimes arise. DM2 tends to be less severe than DM1REHABILITATION
Myotonic dystrophy is a progressive disorder that affects multiple body systems. Currently there is no cure for myotonic dystrophy (DM1, DM2), and therefore managing the disease symptoms is essential to enhancing quality of life for individuals living with DM. In addition to physicians, physical therapists, occupational therapists and speech therapists are essential members ofFIND A DOCTOR
One of the requests Myotonic gets most frequently from community members is for referrals to doctors, therapists and other medical professionals who understand myotonic dystrophy (DM) and have experience in treating DM patients. To meet that need, Myotonic offers the Find a Doctor Program, a constantly-expanding, community-generated list that features clinicians based in MYOTONIC DYSTROPHY ANESTHESIA GUIDELINES Myotonic Dystrophy Anesthesia Guidelines. Please know that the use of anesthesia raises special risks to those living with myotonic dystrophy (DM), as the disease results in heightened sensitivity to sedatives and analgesics. Pay particular attention to the serious complications that can arise in the post-anesthesia period, when riskof
MDF COMMUNITY FORUM UPDATE MDF is proud to announce Maya Gosztyla as one of the MDF’s 2021 Fellowship Recipients! Maya Gosztyla’s project “Investigating RNA-binding Proteins and RNA Localization in cDM1 Organoids” plans to search for new RBPs, beyond those currently known, that are dysregulated in DM1. EXERCISE GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY EXERCISE GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY MYOTONIC DYSTROPHY FOUNDATION www.myotonic.org 1 This guide for exercise should be used with recommendations from your health care providers. All individuals should talk to their health care providers before starting a new exercise program. NUTRITION GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY Q NUTRITION GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY MYOTONIC DYSTROPHY FOUNDATION www.myotonic.org 1 Getting Started on a Healthy Diet Here are some strategies and tips to consider when you firstbegin
ANESTHETIC MANAGEMENT OF PATIENTS WITH MYOTONIC DYSTROPHY 1 Anesthetic Risks, as detailed in the Guidelines, result from DM effects that include: • Cardiac conduction defects and potentially fatal arrhythmias • Ventilatory insufficiency and poor airway protection • Gastrointestinal dysmotility that frequently results in pseudo-obstruction • Erratic responses to succinylcholine - though DM does not increase true malignant hyperthermia OCCUPATIONAL THERAPY SUGGESTIONS FOR THE … MDF | TOOLKIT 81 OCCUPATIONAL THERAPY SUGGESTIONS FOR THE MANAGEMENT OF A MYOTONIC DYSTROPHY PATIENT Cynthia Gagnon, erg, Ph.D. Professeur adjoint, École de réadaptation, Faculté de médecine et des sciences de la santé INTERNATIONAL MYOTONIC DYSTROPHY FAMILY DAY Myotonic Dystrophy Family Day July 24th 2021 In addition to the International Myotonic Dystrophy Awareness Day in September, we will continue to celebrate the annual International DM Family day in July. Those living with DM sometimes feel isolated and overwhelmed. The Family Day is for the community to come together to support each other in a day of fun, to share stories andREHABILITATION
Myotonic dystrophy is a progressive disorder that affects multiple body systems. Currently there is no cure for myotonic dystrophy (DM1, DM2), and therefore managing the disease symptoms is essential to enhancing quality of life for individuals living with DM. In addition to physicians, physical therapists, occupational therapists and speech therapists are essential members ofFIND A DOCTOR
One of the requests Myotonic gets most frequently from community members is for referrals to doctors, therapists and other medical professionals who understand myotonic dystrophy (DM) and have experience in treating DM patients. To meet that need, Myotonic offers the Find a Doctor Program, a constantly-expanding, community-generated list that features clinicians based in MYOTONIC DYSTROPHY ANESTHESIA GUIDELINES Myotonic Dystrophy Anesthesia Guidelines. Please know that the use of anesthesia raises special risks to those living with myotonic dystrophy (DM), as the disease results in heightened sensitivity to sedatives and analgesics. Pay particular attention to the serious complications that can arise in the post-anesthesia period, when riskof
MUSCLE - DM1
Myotonia – sustained muscle contraction and difficulty relaxing muscles – is a hallmark of DM1 and is an aspect of the disease that distinguishes it from other forms of muscular dystrophy. It affects nearly 100 percent of adult-onset DM1. Myotonia can contribute to muscle stiffness, pain, prolonged hand grip, speech and swallowing GENETIC TESTING FOR MYOTONIC DYSTROPHY The current diagnostic code for myotonic dystrophy is 359.21. Updated ICD-10 codes will be implemented in October 2014 and at that time the DM code will change to G71.1. Insurance companies should be able to explain what percentage of the cost of a DM genetic test they will cover. Individuals with very low incomes can sometimes qualify for MDF COMMUNITY FORUM UPDATE MDF is proud to announce Maya Gosztyla as one of the MDF’s 2021 Fellowship Recipients! Maya Gosztyla’s project “Investigating RNA-binding Proteins and RNA Localization in cDM1 Organoids” plans to search for new RBPs, beyond those currently known, that are dysregulated in DM1. HOW SHOULD DM PATIENTS EXERCISE? Recognizing that exercise does not prevent the progression of muscle weakness in DM, are there exercise regimens that are recommended to try and maintain what muscle strength is present? Overdoing is counter-productive. Low intensity aerobic training may be useful. For more information, read the Exercise Guidelines published on theMyotonic website.
IDMC-13: INTERNATIONAL MYOTONIC DYSTROPHY CONSORTIUM TBD 2022 Osaka City Central Public Hall Osaka, Japan The upcoming 13th International Myotonic Dystrophy Consortium Meeting at the Osaka City Central Public Hall, Osaka, Japan has been postponed to 2022. We are looking forward to a scientifically interesting and important meeting with leading scientists in the field of Myotonic Dystrophy from allaround the world.
CITATIONS | MYOTONIC DYSTROPHY FOUNDATION Medical References & Citations for Myotonic Dystrophy Disease Mechanism Prevalence Nicholas E. Johnson, Russell J. Butterfield, Katie Mayne, Tara Newcomb,Carina Imburgia, Diane Dunn, Brett Duval, Marcia L. Feldkamp, Robert B. Weiss. Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program, Neurology Feb 2021, 96 (7) e1045-e1053, MYOTONIC DYSTROPHY TESTING & DIAGNOSIS Diagnosis of myotonic dystrophy is not difficult once the disorder is suspected. Your path to a correct myotonic dystrophy (DM) diagnosis can be long and complex, as medical professionals see these cases so infrequently that they often aren’t familiar with DM. WHAT IS THE PROGNOSIS FOR MYOTONIC DYSTROPHY DIAGNOSES Myotonic dystrophy is a progressive or degenerative disease. Symptoms tend to worsen gradually over several decades. While no treatment exists that slows the progression of myotonic dystrophy, management of its symptoms can greatly improve patient quality of life. Early intervention can reduce or avert complications that sometimes arise. DM2 tends to be less severe than DM1REHABILITATION
Myotonic dystrophy is a progressive disorder that affects multiple body systems. Currently there is no cure for myotonic dystrophy (DM1, DM2), and therefore managing the disease symptoms is essential to enhancing quality of life for individuals living with DM. In addition to physicians, physical therapists, occupational therapists and speech therapists are essential members ofFIND A DOCTOR
One of the requests Myotonic gets most frequently from community members is for referrals to doctors, therapists and other medical professionals who understand myotonic dystrophy (DM) and have experience in treating DM patients. To meet that need, Myotonic offers the Find a Doctor Program, a constantly-expanding, community-generated list that features clinicians based in MYOTONIC DYSTROPHY ANESTHESIA GUIDELINES Myotonic Dystrophy Anesthesia Guidelines. Please know that the use of anesthesia raises special risks to those living with myotonic dystrophy (DM), as the disease results in heightened sensitivity to sedatives and analgesics. Pay particular attention to the serious complications that can arise in the post-anesthesia period, when riskof
MDF COMMUNITY FORUM UPDATE MDF is proud to announce Maya Gosztyla as one of the MDF’s 2021 Fellowship Recipients! Maya Gosztyla’s project “Investigating RNA-binding Proteins and RNA Localization in cDM1 Organoids” plans to search for new RBPs, beyond those currently known, that are dysregulated in DM1. EXERCISE GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY EXERCISE GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY MYOTONIC DYSTROPHY FOUNDATION www.myotonic.org 1 This guide for exercise should be used with recommendations from your health care providers. All individuals should talk to their health care providers before starting a new exercise program. NUTRITION GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY Q NUTRITION GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY MYOTONIC DYSTROPHY FOUNDATION www.myotonic.org 1 Getting Started on a Healthy Diet Here are some strategies and tips to consider when you firstbegin
ANESTHETIC MANAGEMENT OF PATIENTS WITH MYOTONIC DYSTROPHY 1 Anesthetic Risks, as detailed in the Guidelines, result from DM effects that include: • Cardiac conduction defects and potentially fatal arrhythmias • Ventilatory insufficiency and poor airway protection • Gastrointestinal dysmotility that frequently results in pseudo-obstruction • Erratic responses to succinylcholine - though DM does not increase true malignant hyperthermia OCCUPATIONAL THERAPY SUGGESTIONS FOR THE … MDF | TOOLKIT 81 OCCUPATIONAL THERAPY SUGGESTIONS FOR THE MANAGEMENT OF A MYOTONIC DYSTROPHY PATIENT Cynthia Gagnon, erg, Ph.D. Professeur adjoint, École de réadaptation, Faculté de médecine et des sciences de la santé MYOTONIC DYSTROPHY TESTING & DIAGNOSIS Diagnosis of myotonic dystrophy is not difficult once the disorder is suspected. Your path to a correct myotonic dystrophy (DM) diagnosis can be long and complex, as medical professionals see these cases so infrequently that they often aren’t familiar with DM. WHAT IS THE PROGNOSIS FOR MYOTONIC DYSTROPHY DIAGNOSES Myotonic dystrophy is a progressive or degenerative disease. Symptoms tend to worsen gradually over several decades. While no treatment exists that slows the progression of myotonic dystrophy, management of its symptoms can greatly improve patient quality of life. Early intervention can reduce or avert complications that sometimes arise. DM2 tends to be less severe than DM1REHABILITATION
Myotonic dystrophy is a progressive disorder that affects multiple body systems. Currently there is no cure for myotonic dystrophy (DM1, DM2), and therefore managing the disease symptoms is essential to enhancing quality of life for individuals living with DM. In addition to physicians, physical therapists, occupational therapists and speech therapists are essential members ofFIND A DOCTOR
One of the requests Myotonic gets most frequently from community members is for referrals to doctors, therapists and other medical professionals who understand myotonic dystrophy (DM) and have experience in treating DM patients. To meet that need, Myotonic offers the Find a Doctor Program, a constantly-expanding, community-generated list that features clinicians based in MYOTONIC DYSTROPHY ANESTHESIA GUIDELINES Myotonic Dystrophy Anesthesia Guidelines. Please know that the use of anesthesia raises special risks to those living with myotonic dystrophy (DM), as the disease results in heightened sensitivity to sedatives and analgesics. Pay particular attention to the serious complications that can arise in the post-anesthesia period, when riskof
MDF COMMUNITY FORUM UPDATE MDF is proud to announce Maya Gosztyla as one of the MDF’s 2021 Fellowship Recipients! Maya Gosztyla’s project “Investigating RNA-binding Proteins and RNA Localization in cDM1 Organoids” plans to search for new RBPs, beyond those currently known, that are dysregulated in DM1. EXERCISE GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY EXERCISE GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY MYOTONIC DYSTROPHY FOUNDATION www.myotonic.org 1 This guide for exercise should be used with recommendations from your health care providers. All individuals should talk to their health care providers before starting a new exercise program. NUTRITION GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY Q NUTRITION GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY MYOTONIC DYSTROPHY FOUNDATION www.myotonic.org 1 Getting Started on a Healthy Diet Here are some strategies and tips to consider when you firstbegin
ANESTHETIC MANAGEMENT OF PATIENTS WITH MYOTONIC DYSTROPHY 1 Anesthetic Risks, as detailed in the Guidelines, result from DM effects that include: • Cardiac conduction defects and potentially fatal arrhythmias • Ventilatory insufficiency and poor airway protection • Gastrointestinal dysmotility that frequently results in pseudo-obstruction • Erratic responses to succinylcholine - though DM does not increase true malignant hyperthermia OCCUPATIONAL THERAPY SUGGESTIONS FOR THE … MDF | TOOLKIT 81 OCCUPATIONAL THERAPY SUGGESTIONS FOR THE MANAGEMENT OF A MYOTONIC DYSTROPHY PATIENT Cynthia Gagnon, erg, Ph.D. Professeur adjoint, École de réadaptation, Faculté de médecine et des sciences de la santé INTERNATIONAL MYOTONIC DYSTROPHY FAMILY DAY Myotonic Dystrophy Family Day July 24th 2021 In addition to the International Myotonic Dystrophy Awareness Day in September, we will continue to celebrate the annual International DM Family day in July. Those living with DM sometimes feel isolated and overwhelmed. The Family Day is for the community to come together to support each other in a day of fun, to share stories andREHABILITATION
Myotonic dystrophy is a progressive disorder that affects multiple body systems. Currently there is no cure for myotonic dystrophy (DM1, DM2), and therefore managing the disease symptoms is essential to enhancing quality of life for individuals living with DM. In addition to physicians, physical therapists, occupational therapists and speech therapists are essential members ofFIND A DOCTOR
One of the requests Myotonic gets most frequently from community members is for referrals to doctors, therapists and other medical professionals who understand myotonic dystrophy (DM) and have experience in treating DM patients. To meet that need, Myotonic offers the Find a Doctor Program, a constantly-expanding, community-generated list that features clinicians based in MYOTONIC DYSTROPHY ANESTHESIA GUIDELINES Myotonic Dystrophy Anesthesia Guidelines. Please know that the use of anesthesia raises special risks to those living with myotonic dystrophy (DM), as the disease results in heightened sensitivity to sedatives and analgesics. Pay particular attention to the serious complications that can arise in the post-anesthesia period, when riskof
MUSCLE - DM1
Myotonia – sustained muscle contraction and difficulty relaxing muscles – is a hallmark of DM1 and is an aspect of the disease that distinguishes it from other forms of muscular dystrophy. It affects nearly 100 percent of adult-onset DM1. Myotonia can contribute to muscle stiffness, pain, prolonged hand grip, speech and swallowing GENETIC TESTING FOR MYOTONIC DYSTROPHY The current diagnostic code for myotonic dystrophy is 359.21. Updated ICD-10 codes will be implemented in October 2014 and at that time the DM code will change to G71.1. Insurance companies should be able to explain what percentage of the cost of a DM genetic test they will cover. Individuals with very low incomes can sometimes qualify for MDF COMMUNITY FORUM UPDATE MDF is proud to announce Maya Gosztyla as one of the MDF’s 2021 Fellowship Recipients! Maya Gosztyla’s project “Investigating RNA-binding Proteins and RNA Localization in cDM1 Organoids” plans to search for new RBPs, beyond those currently known, that are dysregulated in DM1. HOW SHOULD DM PATIENTS EXERCISE? Recognizing that exercise does not prevent the progression of muscle weakness in DM, are there exercise regimens that are recommended to try and maintain what muscle strength is present? Overdoing is counter-productive. Low intensity aerobic training may be useful. For more information, read the Exercise Guidelines published on theMyotonic website.
IDMC-13: INTERNATIONAL MYOTONIC DYSTROPHY CONSORTIUM TBD 2022 Osaka City Central Public Hall Osaka, Japan The upcoming 13th International Myotonic Dystrophy Consortium Meeting at the Osaka City Central Public Hall, Osaka, Japan has been postponed to 2022. We are looking forward to a scientifically interesting and important meeting with leading scientists in the field of Myotonic Dystrophy from allaround the world.
CITATIONS | MYOTONIC DYSTROPHY FOUNDATION Medical References & Citations for Myotonic Dystrophy Disease Mechanism Prevalence Nicholas E. Johnson, Russell J. Butterfield, Katie Mayne, Tara Newcomb,Carina Imburgia, Diane Dunn, Brett Duval, Marcia L. Feldkamp, Robert B. Weiss. Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program, Neurology Feb 2021, 96 (7) e1045-e1053, MYOTONIC DYSTROPHY TESTING & DIAGNOSIS Diagnosis of myotonic dystrophy is not difficult once the disorder is suspected. Your path to a correct myotonic dystrophy (DM) diagnosis can be long and complex, as medical professionals see these cases so infrequently that they often aren’t familiar with DM. WHAT IS THE PROGNOSIS FOR MYOTONIC DYSTROPHY DIAGNOSES Myotonic dystrophy is a progressive or degenerative disease. Symptoms tend to worsen gradually over several decades. While no treatment exists that slows the progression of myotonic dystrophy, management of its symptoms can greatly improve patient quality of life. Early intervention can reduce or avert complications that sometimes arise. DM2 tends to be less severe than DM1REHABILITATION
Myotonic dystrophy is a progressive disorder that affects multiple body systems. Currently there is no cure for myotonic dystrophy (DM1, DM2), and therefore managing the disease symptoms is essential to enhancing quality of life for individuals living with DM. In addition to physicians, physical therapists, occupational therapists and speech therapists are essential members ofFIND A DOCTOR
One of the requests Myotonic gets most frequently from community members is for referrals to doctors, therapists and other medical professionals who understand myotonic dystrophy (DM) and have experience in treating DM patients. To meet that need, Myotonic offers the Find a Doctor Program, a constantly-expanding, community-generated list that features clinicians based in MYOTONIC DYSTROPHY ANESTHESIA GUIDELINES Myotonic Dystrophy Anesthesia Guidelines. Please know that the use of anesthesia raises special risks to those living with myotonic dystrophy (DM), as the disease results in MDF COMMUNITY FORUM UPDATE MDF is proud to announce Maya Gosztyla as one of the MDF’s 2021 Fellowship Recipients! Maya Gosztyla’s project “Investigating RNA-binding Proteins and RNA Localization in cDM1 Organoids” plans to search for new RBPs, beyond those currently known, that are dysregulated in DM1. EXERCISE GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY EXERCISE GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY MYOTONIC DYSTROPHY FOUNDATION www.myotonic.org 1 This guide for exercise should be used with recommendations from your health care providers. All individuals should talk to their health care providers before starting a new exercise program. NUTRITION GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY Q NUTRITION GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY MYOTONIC DYSTROPHY FOUNDATION www.myotonic.org 1 Getting Started on a Healthy Diet Here are some strategies and tips to consider when you firstbegin
ANESTHETIC MANAGEMENT OF PATIENTS WITH MYOTONIC DYSTROPHY 1 Anesthetic Risks, as detailed in the Guidelines, result from DM effects that include: • Cardiac conduction defects and potentially fatal arrhythmias • Ventilatory insufficiency and poor airway protection • Gastrointestinal dysmotility that frequently results in pseudo-obstruction • Erratic responses to succinylcholine - though DM does not increase true malignant hyperthermia OCCUPATIONAL THERAPY SUGGESTIONS FOR THE … MDF | TOOLKIT 81 OCCUPATIONAL THERAPY SUGGESTIONS FOR THE MANAGEMENT OF A MYOTONIC DYSTROPHY PATIENT Cynthia Gagnon, erg, Ph.D. Professeur adjoint, École de réadaptation, Faculté de médecine et des sciences de la santé MYOTONIC DYSTROPHY TESTING & DIAGNOSIS Diagnosis of myotonic dystrophy is not difficult once the disorder is suspected. Your path to a correct myotonic dystrophy (DM) diagnosis can be long and complex, as medical professionals see these cases so infrequently that they often aren’t familiar with DM. WHAT IS THE PROGNOSIS FOR MYOTONIC DYSTROPHY DIAGNOSES Myotonic dystrophy is a progressive or degenerative disease. Symptoms tend to worsen gradually over several decades. While no treatment exists that slows the progression of myotonic dystrophy, management of its symptoms can greatly improve patient quality of life. Early intervention can reduce or avert complications that sometimes arise. DM2 tends to be less severe than DM1REHABILITATION
Myotonic dystrophy is a progressive disorder that affects multiple body systems. Currently there is no cure for myotonic dystrophy (DM1, DM2), and therefore managing the disease symptoms is essential to enhancing quality of life for individuals living with DM. In addition to physicians, physical therapists, occupational therapists and speech therapists are essential members ofFIND A DOCTOR
One of the requests Myotonic gets most frequently from community members is for referrals to doctors, therapists and other medical professionals who understand myotonic dystrophy (DM) and have experience in treating DM patients. To meet that need, Myotonic offers the Find a Doctor Program, a constantly-expanding, community-generated list that features clinicians based in MYOTONIC DYSTROPHY ANESTHESIA GUIDELINES Myotonic Dystrophy Anesthesia Guidelines. Please know that the use of anesthesia raises special risks to those living with myotonic dystrophy (DM), as the disease results in MDF COMMUNITY FORUM UPDATE MDF is proud to announce Maya Gosztyla as one of the MDF’s 2021 Fellowship Recipients! Maya Gosztyla’s project “Investigating RNA-binding Proteins and RNA Localization in cDM1 Organoids” plans to search for new RBPs, beyond those currently known, that are dysregulated in DM1. EXERCISE GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY EXERCISE GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY MYOTONIC DYSTROPHY FOUNDATION www.myotonic.org 1 This guide for exercise should be used with recommendations from your health care providers. All individuals should talk to their health care providers before starting a new exercise program. NUTRITION GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY Q NUTRITION GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY MYOTONIC DYSTROPHY FOUNDATION www.myotonic.org 1 Getting Started on a Healthy Diet Here are some strategies and tips to consider when you firstbegin
ANESTHETIC MANAGEMENT OF PATIENTS WITH MYOTONIC DYSTROPHY 1 Anesthetic Risks, as detailed in the Guidelines, result from DM effects that include: • Cardiac conduction defects and potentially fatal arrhythmias • Ventilatory insufficiency and poor airway protection • Gastrointestinal dysmotility that frequently results in pseudo-obstruction • Erratic responses to succinylcholine - though DM does not increase true malignant hyperthermia OCCUPATIONAL THERAPY SUGGESTIONS FOR THE … MDF | TOOLKIT 81 OCCUPATIONAL THERAPY SUGGESTIONS FOR THE MANAGEMENT OF A MYOTONIC DYSTROPHY PATIENT Cynthia Gagnon, erg, Ph.D. Professeur adjoint, École de réadaptation, Faculté de médecine et des sciences de la santéREHABILITATION
Myotonic dystrophy is a progressive disorder that affects multiple body systems. Currently there is no cure for myotonic dystrophy (DM1, DM2), and therefore managing the disease symptoms is essential to enhancing quality of life for individuals living with DM. In addition to physicians, physical therapists, occupational therapists and speech therapists are essential members of MDF COMMUNITY FORUM UPDATE MDF is proud to announce Maya Gosztyla as one of the MDF’s 2021 Fellowship Recipients! Maya Gosztyla’s project “Investigating RNA-binding Proteins and RNA Localization in cDM1 Organoids” plans to search for new RBPs, beyond those currently known, that are dysregulated in DM1.MUSCLE - DM1
Patterns: Skeletal muscle weakness is a major feature of DM1. The weakness progresses at the relatively slow rate of 1 to 3 percent per year. With time, it impedes mobility and activities of daily living. MYOTONIC DYSTROPHY: FIND A DOCTOR / SPECIALIST Find a doctor or other medical professional in your area. Here are some tips to get the most out of our interactive map: Zoom into the interactive map to see all the medical professionals in a given area. Hold control and scroll your mouse wheel up and down, or click the plus sign to zoom in (see a smaller geographic area) and the minus sign to zoom out (see a larger geographic area). CITATIONS | MYOTONIC DYSTROPHY FOUNDATION Medical References & Citations for Myotonic Dystrophy Disease Mechanism Prevalence Nicholas E. Johnson, Russell J. Butterfield, Katie Mayne, Tara Newcomb,Carina Imburgia, Diane Dunn, Brett Duval, Marcia L. Feldkamp, Robert B. Weiss. Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program, Neurology Feb 2021, 96 (7) e1045-e1053, IDMC-13: INTERNATIONAL MYOTONIC DYSTROPHY CONSORTIUM TBD 2022 Osaka City Central Public Hall Osaka, Japan The upcoming 13th International Myotonic Dystrophy Consortium Meeting at the Osaka City Central Public Hall, Osaka, Japan has been postponed to 2022. We are looking forward to a scientifically interesting and important meeting with leading scientists in the field of Myotonic Dystrophy from allaround the world.
CARE GUIDELINES FOR SPEECH AND LANGUAGE PATHOLOGISTS 663 Thirteenth Street, Suite 100, Oakland, California 94612 415.800.7777 | info@myotonic.org | www.myotonic.org The Myotonic Dystrophy Foundation (MDF) is TREATING SLEEP DISORDERS IN DM1 Patient-reported data from MDF’s Myotonic Dystrophy Family Registry (MDFR) indicate that impaired sleep or daytime sleepiness are among the most prevalent symptoms of DM1, experienced by over 76% of patients. Despite the prevalence and substantial burden imposed by sleep disorders, studies report that many patients do not receivetreatment.
VIRTUAL CHAIR YOGA
Office Address. Myotonic Dystrophy Foundation 663 Thirteenth Street, Suite 100 | Oakland, CA 94612. Phone & Email. Toll Free (US only): 86-MYOTONIC (866-968-6642) PRACTICAL SUGGESTIONS FOR THE ANESTHETIC … The following are some of the key management issues for the anesthesiologist to consider when caring for a patient with DM: 1. General: Myotonic dystrophy was identified because of its unique effects on skeletal muscle, but was subsequently shown to result in MYOTONIC DYSTROPHY TESTING & DIAGNOSIS Diagnosis of myotonic dystrophy is not difficult once the disorder is suspected. Your path to a correct myotonic dystrophy (DM) diagnosis can be long and complex, as medical professionals see these cases so infrequently that they often aren’t familiar with DM. WHAT IS THE PROGNOSIS FOR MYOTONIC DYSTROPHY DIAGNOSES Myotonic dystrophy is a progressive or degenerative disease. Symptoms tend to worsen gradually over several decades. While no treatment exists that slows the progression of myotonic dystrophy, management of its symptoms can greatly improve patient quality of life. Early intervention can reduce or avert complications that sometimes arise. DM2 tends to be less severe than DM1REHABILITATION
Myotonic dystrophy is a progressive disorder that affects multiple body systems. Currently there is no cure for myotonic dystrophy (DM1, DM2), and therefore managing the disease symptoms is essential to enhancing quality of life for individuals living with DM. In addition to physicians, physical therapists, occupational therapists and speech therapists are essential members ofFIND A DOCTOR
One of the requests Myotonic gets most frequently from community members is for referrals to doctors, therapists and other medical professionals who understand myotonic dystrophy (DM) and have experience in treating DM patients. To meet that need, Myotonic offers the Find a Doctor Program, a constantly-expanding, community-generated list that features clinicians based in MYOTONIC DYSTROPHY ANESTHESIA GUIDELINES Myotonic Dystrophy Anesthesia Guidelines. Please know that the use of anesthesia raises special risks to those living with myotonic dystrophy (DM), as the disease results in heightened sensitivity to sedatives and analgesics. Pay particular attention to the serious complications that can arise in the post-anesthesia period, when riskof
MDF COMMUNITY FORUM UPDATE MDF is proud to announce Maya Gosztyla as one of the MDF’s 2021 Fellowship Recipients! Maya Gosztyla’s project “Investigating RNA-binding Proteins and RNA Localization in cDM1 Organoids” plans to search for new RBPs, beyond those currently known, that are dysregulated in DM1. EXERCISE GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY EXERCISE GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY MYOTONIC DYSTROPHY FOUNDATION www.myotonic.org 1 This guide for exercise should be used with recommendations from your health care providers. All individuals should talk to their health care providers before starting a new exercise program. NUTRITION GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY Q NUTRITION GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY MYOTONIC DYSTROPHY FOUNDATION www.myotonic.org 1 Getting Started on a Healthy Diet Here are some strategies and tips to consider when you firstbegin
ANESTHETIC MANAGEMENT OF PATIENTS WITH MYOTONIC DYSTROPHY 1 Anesthetic Risks, as detailed in the Guidelines, result from DM effects that include: • Cardiac conduction defects and potentially fatal arrhythmias • Ventilatory insufficiency and poor airway protection • Gastrointestinal dysmotility that frequently results in pseudo-obstruction • Erratic responses to succinylcholine - though DM does not increase true malignant hyperthermia OCCUPATIONAL THERAPY SUGGESTIONS FOR THE … MDF | TOOLKIT 81 OCCUPATIONAL THERAPY SUGGESTIONS FOR THE MANAGEMENT OF A MYOTONIC DYSTROPHY PATIENT Cynthia Gagnon, erg, Ph.D. Professeur adjoint, École de réadaptation, Faculté de médecine et des sciences de la santé MYOTONIC DYSTROPHY TESTING & DIAGNOSIS Diagnosis of myotonic dystrophy is not difficult once the disorder is suspected. Your path to a correct myotonic dystrophy (DM) diagnosis can be long and complex, as medical professionals see these cases so infrequently that they often aren’t familiar with DM. WHAT IS THE PROGNOSIS FOR MYOTONIC DYSTROPHY DIAGNOSES Myotonic dystrophy is a progressive or degenerative disease. Symptoms tend to worsen gradually over several decades. While no treatment exists that slows the progression of myotonic dystrophy, management of its symptoms can greatly improve patient quality of life. Early intervention can reduce or avert complications that sometimes arise. DM2 tends to be less severe than DM1REHABILITATION
Myotonic dystrophy is a progressive disorder that affects multiple body systems. Currently there is no cure for myotonic dystrophy (DM1, DM2), and therefore managing the disease symptoms is essential to enhancing quality of life for individuals living with DM. In addition to physicians, physical therapists, occupational therapists and speech therapists are essential members ofFIND A DOCTOR
One of the requests Myotonic gets most frequently from community members is for referrals to doctors, therapists and other medical professionals who understand myotonic dystrophy (DM) and have experience in treating DM patients. To meet that need, Myotonic offers the Find a Doctor Program, a constantly-expanding, community-generated list that features clinicians based in MYOTONIC DYSTROPHY ANESTHESIA GUIDELINES Myotonic Dystrophy Anesthesia Guidelines. Please know that the use of anesthesia raises special risks to those living with myotonic dystrophy (DM), as the disease results in heightened sensitivity to sedatives and analgesics. Pay particular attention to the serious complications that can arise in the post-anesthesia period, when riskof
MDF COMMUNITY FORUM UPDATE MDF is proud to announce Maya Gosztyla as one of the MDF’s 2021 Fellowship Recipients! Maya Gosztyla’s project “Investigating RNA-binding Proteins and RNA Localization in cDM1 Organoids” plans to search for new RBPs, beyond those currently known, that are dysregulated in DM1. EXERCISE GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY EXERCISE GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY MYOTONIC DYSTROPHY FOUNDATION www.myotonic.org 1 This guide for exercise should be used with recommendations from your health care providers. All individuals should talk to their health care providers before starting a new exercise program. NUTRITION GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY Q NUTRITION GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY MYOTONIC DYSTROPHY FOUNDATION www.myotonic.org 1 Getting Started on a Healthy Diet Here are some strategies and tips to consider when you firstbegin
ANESTHETIC MANAGEMENT OF PATIENTS WITH MYOTONIC DYSTROPHY 1 Anesthetic Risks, as detailed in the Guidelines, result from DM effects that include: • Cardiac conduction defects and potentially fatal arrhythmias • Ventilatory insufficiency and poor airway protection • Gastrointestinal dysmotility that frequently results in pseudo-obstruction • Erratic responses to succinylcholine - though DM does not increase true malignant hyperthermia OCCUPATIONAL THERAPY SUGGESTIONS FOR THE … MDF | TOOLKIT 81 OCCUPATIONAL THERAPY SUGGESTIONS FOR THE MANAGEMENT OF A MYOTONIC DYSTROPHY PATIENT Cynthia Gagnon, erg, Ph.D. Professeur adjoint, École de réadaptation, Faculté de médecine et des sciences de la santé MYOTONIC DYSTROPHY ANESTHESIA GUIDELINES Myotonic Dystrophy Anesthesia Guidelines. Please know that the use of anesthesia raises special risks to those living with myotonic dystrophy (DM), as the disease results in heightened sensitivity to sedatives and analgesics. Pay particular attention to the serious complications that can arise in the post-anesthesia period, when riskof
GENETIC TESTING FOR MYOTONIC DYSTROPHY The current diagnostic code for myotonic dystrophy is 359.21. Updated ICD-10 codes will be implemented in October 2014 and at that time the DM code will change to G71.1. Insurance companies should be able to explain what percentage of the cost of a DM genetic test they will cover. Individuals with very low incomes can sometimes qualify for MDF COMMUNITY FORUM UPDATE MDF is proud to announce Maya Gosztyla as one of the MDF’s 2021 Fellowship Recipients! Maya Gosztyla’s project “Investigating RNA-binding Proteins and RNA Localization in cDM1 Organoids” plans to search for new RBPs, beyond those currently known, that are dysregulated in DM1.MUSCLE - DM1
Myotonia – sustained muscle contraction and difficulty relaxing muscles – is a hallmark of DM1 and is an aspect of the disease that distinguishes it from other forms of muscular dystrophy. It affects nearly 100 percent of adult-onset DM1. Myotonia can contribute to muscle stiffness, pain, prolonged hand grip, speech and swallowingVIRTUAL CHAIR YOGA
0:00 / 43:46. Live. •. Presented during Myotonic's Friday Afternoon Webinar Series. Join Ellen Shapiro for a gentle chair yoga session. We will do some breath awareness, stretching, and mindful movements. Yoga helps to calm us and build flexibility and strength. If you are experiencing anxiety during these unusual times, this might be a nice TREATING SLEEP DISORDERS IN DM1 Treating Sleep Disorders in DM1. Patient-reported data from MDF’s Myotonic Dystrophy Family Registry (MDFR) indicate that impaired sleep or daytime sleepiness are among the most prevalent symptoms of DM1, experienced by over 76% of patients. Despite the prevalence and substantial burden imposed by sleep disorders, studies report thatmany
IDMC-13: INTERNATIONAL MYOTONIC DYSTROPHY CONSORTIUM TBD 2022 Osaka City Central Public Hall Osaka, Japan The upcoming 13th International Myotonic Dystrophy Consortium Meeting at the Osaka City Central Public Hall, Osaka, Japan has been postponed to 2022. We are looking forward to a scientifically interesting and important meeting with leading scientists in the field of Myotonic Dystrophy from allaround the world.
THE GENETICS OF DM1 REPEAT SIZE The Genetics of DM1 Repeat Size. Since its discovery almost 25 years ago, researchers have been working to try to understand the DNA mutation causing myotonic dystrophy type 1 (DM1). The mutation is known by many names, including “CTG repeat,” “triplet repeat,” “trinucleotide repeat,” “expansion mutation” and many more. PRACTICAL SUGGESTIONS FOR THE ANESTHETIC … The following are some of the key management issues for the anesthesiologist to consider when caring for a patient with DM: 1. General: Myotonic dystrophy was identified because of its unique effects on skeletal muscle, but was subsequently shown to result in IONIS-DMPKRX CLINICAL PROGRAM IN MYOTONIC DYSTROPHY 6 IONIS-DMPK-2.5 Rxis a Gen 2.5 Antisense Drug Designed to Reduce Toxic RNA Levels Cooper, T.. (2009) Science. 325:272-273 n First muscle target n IONIS-DMPK-2.5 Rxtargets toxic DMPK RNAs in multiple tissues n RNase H1-mediated degradation of DMPK RNA releases sequestered proteins and restores normal cellular MYOTONIC DYSTROPHY TESTING & DIAGNOSIS Diagnosis of myotonic dystrophy is not difficult once the disorder is suspected. Your path to a correct myotonic dystrophy (DM) diagnosis can be long and complex, as medical professionals see these cases so infrequently that they often aren’t familiar with DM. WHAT IS THE PROGNOSIS FOR MYOTONIC DYSTROPHY DIAGNOSES Myotonic dystrophy is a progressive or degenerative disease. Symptoms tend to worsen gradually over several decades. While no treatment exists that slows the progression of myotonic dystrophy, management of its symptoms can greatly improve patient quality of life. Early intervention can reduce or avert complications that sometimes arise. DM2 tends to be less severe than DM1REHABILITATION
Myotonic dystrophy is a progressive disorder that affects multiple body systems. Currently there is no cure for myotonic dystrophy (DM1, DM2), and therefore managing the disease symptoms is essential to enhancing quality of life for individuals living with DM. In addition to physicians, physical therapists, occupational therapists and speech therapists are essential members ofFIND A DOCTOR
One of the requests Myotonic gets most frequently from community members is for referrals to doctors, therapists and other medical professionals who understand myotonic dystrophy (DM) and have experience in treating DM patients. To meet that need, Myotonic offers the Find a Doctor Program, a constantly-expanding, community-generated list that features clinicians based in MYOTONIC DYSTROPHY ANESTHESIA GUIDELINES Myotonic Dystrophy Anesthesia Guidelines. Please know that the use of anesthesia raises special risks to those living with myotonic dystrophy (DM), as the disease results in heightened sensitivity to sedatives and analgesics. Pay particular attention to the serious complications that can arise in the post-anesthesia period, when riskof
MDF COMMUNITY FORUM UPDATE MDF is proud to announce Maya Gosztyla as one of the MDF’s 2021 Fellowship Recipients! Maya Gosztyla’s project “Investigating RNA-binding Proteins and RNA Localization in cDM1 Organoids” plans to search for new RBPs, beyond those currently known, that are dysregulated in DM1. EXERCISE GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY EXERCISE GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY MYOTONIC DYSTROPHY FOUNDATION www.myotonic.org 1 This guide for exercise should be used with recommendations from your health care providers. All individuals should talk to their health care providers before starting a new exercise program. NUTRITION GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY Q NUTRITION GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY MYOTONIC DYSTROPHY FOUNDATION www.myotonic.org 1 Getting Started on a Healthy Diet Here are some strategies and tips to consider when you firstbegin
ANESTHETIC MANAGEMENT OF PATIENTS WITH MYOTONIC DYSTROPHY 1 Anesthetic Risks, as detailed in the Guidelines, result from DM effects that include: • Cardiac conduction defects and potentially fatal arrhythmias • Ventilatory insufficiency and poor airway protection • Gastrointestinal dysmotility that frequently results in pseudo-obstruction • Erratic responses to succinylcholine - though DM does not increase true malignant hyperthermia OCCUPATIONAL THERAPY SUGGESTIONS FOR THE … MDF | TOOLKIT 81 OCCUPATIONAL THERAPY SUGGESTIONS FOR THE MANAGEMENT OF A MYOTONIC DYSTROPHY PATIENT Cynthia Gagnon, erg, Ph.D. Professeur adjoint, École de réadaptation, Faculté de médecine et des sciences de la santé MYOTONIC DYSTROPHY TESTING & DIAGNOSIS Diagnosis of myotonic dystrophy is not difficult once the disorder is suspected. Your path to a correct myotonic dystrophy (DM) diagnosis can be long and complex, as medical professionals see these cases so infrequently that they often aren’t familiar with DM. WHAT IS THE PROGNOSIS FOR MYOTONIC DYSTROPHY DIAGNOSES Myotonic dystrophy is a progressive or degenerative disease. Symptoms tend to worsen gradually over several decades. While no treatment exists that slows the progression of myotonic dystrophy, management of its symptoms can greatly improve patient quality of life. Early intervention can reduce or avert complications that sometimes arise. DM2 tends to be less severe than DM1REHABILITATION
Myotonic dystrophy is a progressive disorder that affects multiple body systems. Currently there is no cure for myotonic dystrophy (DM1, DM2), and therefore managing the disease symptoms is essential to enhancing quality of life for individuals living with DM. In addition to physicians, physical therapists, occupational therapists and speech therapists are essential members ofFIND A DOCTOR
One of the requests Myotonic gets most frequently from community members is for referrals to doctors, therapists and other medical professionals who understand myotonic dystrophy (DM) and have experience in treating DM patients. To meet that need, Myotonic offers the Find a Doctor Program, a constantly-expanding, community-generated list that features clinicians based in MYOTONIC DYSTROPHY ANESTHESIA GUIDELINES Myotonic Dystrophy Anesthesia Guidelines. Please know that the use of anesthesia raises special risks to those living with myotonic dystrophy (DM), as the disease results in heightened sensitivity to sedatives and analgesics. Pay particular attention to the serious complications that can arise in the post-anesthesia period, when riskof
MDF COMMUNITY FORUM UPDATE MDF is proud to announce Maya Gosztyla as one of the MDF’s 2021 Fellowship Recipients! Maya Gosztyla’s project “Investigating RNA-binding Proteins and RNA Localization in cDM1 Organoids” plans to search for new RBPs, beyond those currently known, that are dysregulated in DM1. EXERCISE GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY EXERCISE GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY MYOTONIC DYSTROPHY FOUNDATION www.myotonic.org 1 This guide for exercise should be used with recommendations from your health care providers. All individuals should talk to their health care providers before starting a new exercise program. NUTRITION GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY Q NUTRITION GUIDE FOR PEOPLE LIVING WITH MYOTONIC DYSTROPHY MYOTONIC DYSTROPHY FOUNDATION www.myotonic.org 1 Getting Started on a Healthy Diet Here are some strategies and tips to consider when you firstbegin
ANESTHETIC MANAGEMENT OF PATIENTS WITH MYOTONIC DYSTROPHY 1 Anesthetic Risks, as detailed in the Guidelines, result from DM effects that include: • Cardiac conduction defects and potentially fatal arrhythmias • Ventilatory insufficiency and poor airway protection • Gastrointestinal dysmotility that frequently results in pseudo-obstruction • Erratic responses to succinylcholine - though DM does not increase true malignant hyperthermia OCCUPATIONAL THERAPY SUGGESTIONS FOR THE … MDF | TOOLKIT 81 OCCUPATIONAL THERAPY SUGGESTIONS FOR THE MANAGEMENT OF A MYOTONIC DYSTROPHY PATIENT Cynthia Gagnon, erg, Ph.D. Professeur adjoint, École de réadaptation, Faculté de médecine et des sciences de la santé MYOTONIC DYSTROPHY ANESTHESIA GUIDELINES Myotonic Dystrophy Anesthesia Guidelines. Please know that the use of anesthesia raises special risks to those living with myotonic dystrophy (DM), as the disease results in heightened sensitivity to sedatives and analgesics. Pay particular attention to the serious complications that can arise in the post-anesthesia period, when riskof
GENETIC TESTING FOR MYOTONIC DYSTROPHY The current diagnostic code for myotonic dystrophy is 359.21. Updated ICD-10 codes will be implemented in October 2014 and at that time the DM code will change to G71.1. Insurance companies should be able to explain what percentage of the cost of a DM genetic test they will cover. Individuals with very low incomes can sometimes qualify for MDF COMMUNITY FORUM UPDATE MDF is proud to announce Maya Gosztyla as one of the MDF’s 2021 Fellowship Recipients! Maya Gosztyla’s project “Investigating RNA-binding Proteins and RNA Localization in cDM1 Organoids” plans to search for new RBPs, beyond those currently known, that are dysregulated in DM1.MUSCLE - DM1
Myotonia – sustained muscle contraction and difficulty relaxing muscles – is a hallmark of DM1 and is an aspect of the disease that distinguishes it from other forms of muscular dystrophy. It affects nearly 100 percent of adult-onset DM1. Myotonia can contribute to muscle stiffness, pain, prolonged hand grip, speech and swallowingVIRTUAL CHAIR YOGA
0:00 / 43:46. Live. •. Presented during Myotonic's Friday Afternoon Webinar Series. Join Ellen Shapiro for a gentle chair yoga session. We will do some breath awareness, stretching, and mindful movements. Yoga helps to calm us and build flexibility and strength. If you are experiencing anxiety during these unusual times, this might be a nice TREATING SLEEP DISORDERS IN DM1 Treating Sleep Disorders in DM1. Patient-reported data from MDF’s Myotonic Dystrophy Family Registry (MDFR) indicate that impaired sleep or daytime sleepiness are among the most prevalent symptoms of DM1, experienced by over 76% of patients. Despite the prevalence and substantial burden imposed by sleep disorders, studies report thatmany
IDMC-13: INTERNATIONAL MYOTONIC DYSTROPHY CONSORTIUM TBD 2022 Osaka City Central Public Hall Osaka, Japan The upcoming 13th International Myotonic Dystrophy Consortium Meeting at the Osaka City Central Public Hall, Osaka, Japan has been postponed to 2022. We are looking forward to a scientifically interesting and important meeting with leading scientists in the field of Myotonic Dystrophy from allaround the world.
THE GENETICS OF DM1 REPEAT SIZE The Genetics of DM1 Repeat Size. Since its discovery almost 25 years ago, researchers have been working to try to understand the DNA mutation causing myotonic dystrophy type 1 (DM1). The mutation is known by many names, including “CTG repeat,” “triplet repeat,” “trinucleotide repeat,” “expansion mutation” and many more. PRACTICAL SUGGESTIONS FOR THE ANESTHETIC … The following are some of the key management issues for the anesthesiologist to consider when caring for a patient with DM: 1. General: Myotonic dystrophy was identified because of its unique effects on skeletal muscle, but was subsequently shown to result in IONIS-DMPKRX CLINICAL PROGRAM IN MYOTONIC DYSTROPHY 6 IONIS-DMPK-2.5 Rxis a Gen 2.5 Antisense Drug Designed to Reduce Toxic RNA Levels Cooper, T.. (2009) Science. 325:272-273 n First muscle target n IONIS-DMPK-2.5 Rxtargets toxic DMPK RNAs in multiple tissues n RNase H1-mediated degradation of DMPK RNA releases sequestered proteins and restores normal cellular Skip to main contentSEARCH FORM
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2021 Virtual MDF Annual Conference Registration is Now Open! Learnmore & register!
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International Myotonic Dystrophy Awareness Day Join the Movement onSeptember 15th!
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Clinical Care Recommendations MDF has published the first-ever Consensus-based Care Recommendations for DM1, CDM and DM2! Download and share them with your clinicians and help us improve care for DM families! Get the recommendations*
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Dr. Richard Moxley, Emeritus Member of the MDF Scientific AdvisoryCommittee
MDF is proud to recognize Richard T. Moxley, III, MD for his distinguished service in the field of myotonic dystrophy and his role on the MDF Scientific Advisory Committee. This month Dr. Moxley is retiring from MDF’s Scientific Advisory Committee (SAC), after supporting MDF since our inception, and will now serve as an Emeritusmember.
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Research Fellow Feature: Maya Gosztyla MDF is proud to announce Maya Gosztyla as one of the MDF’s 2021 Fellowship Recipients! Maya Gosztyla’s project “Investigating RNA-binding Proteins and RNA Localization in cDM1 Organoids” plans to search for new RBPs, beyond those currently known, that are dysregulated in DM1. They will conduct this analysis using cerebral organoids, which mimic the cells and structure of the human brain using spherical clumps of cells grown in a dish.Read the rest
Meet Kate Beck, Special Projects Manager MDF is excited to formally welcome Kate Beck as our Special Projects Manager! Kate first engaged with the foundation in 2019 after her close friends were diagnosed with DM. After learning more about our mission, she was inspired to help advance care and a cure.Read the rest
Building on Our Rare Disease Day Success - Advocating for Increased Myotonic Dystrophy Research MDF advocates from across the country did their part as part of another highly successful annual Rare Disease Day celebration. There has been a lot of activity in Washington, D.C. to report on since Rare Disease Day. There are also opportunities to continue our researchadvocacy.
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Myotonic Dystrophy Foundation 663 Thirteenth Street, Suite 100 | Oakland, CA 94612Phone & Email
Toll Free (US only): 86-MYOTONIC (866-968-6642) Direct: 415-800-7777info@myotonic.org
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