• This multi-systemic/multi-organ involvement is a particular feature of myotonic dystrophy, and in some cases, the non-muscle-related features of the condition - especially the heart problems - can be more of an issue for patients than the muscle weakness or myotonia. (treat-nmd.org)
  • Offspring may have a severe form of myotonia referred to as congenital myotonic dystrophy. (msdmanuals.com)
  • Symptoms and signs of myotonic dystrophy begin during adolescence or young adulthood and include myotonia (delayed relaxation after muscle contraction, which may be asymptomatic or described as muscle stiffness), weakness and wasting of distal limb muscles (especially in the hand) and facial muscles (ptosis is especially common), and cardiomyopathy. (msdmanuals.com)
  • Researchers are trying to learn more about what causes the muscle weakness and stiffness (myotonia) in myotonic dystrophy. (myotonic.org)
  • The most prevalent form, DM1 myotonia dystrophy, is caused by an aberrant DNA expansion in the DMPK gene on chromosome 19. (growthplusreports.com)
  • Denver, Colorado, November 5, 2018 /AxisWire/ Nexien BioPharma Inc. (OTC QB: NXEN) ("Nexien" or the "Company") announced that it was initiating an investigation into the use of cannabinoid-based formulations for the treatment of patients suffering from Myotonic Dystrophy (DM) and Myotonia. (greenmarketreport.com)
  • The patient group consists of patients suffering from non-dystrophic myotonia, and both types of myotonic dystrophies. (greenmarketreport.com)
  • Earlier this year Nexien filed a utility patent application with the United States Patent and Trademark Office (USPTO) relating to the use of cannabinoids to treat myotonia, myotonic dystrophy, and other related dystrophies. (greenmarketreport.com)
  • Alex Wasyl, Chief Executive Officer stated, "There is significant anecdotal evidence reinforced by the patient questionnaire results that the use of cannabinoids provides relief to many myotonia and myotonic dystrophy patients. (greenmarketreport.com)
  • 2022-09-29T18:46:23-04:00 https://images.c-span.org/Files/cc6/002/1664491603_002.jpg A resolution recognizing the seriousness of myotonic dystrophy and expressing support for the designation of September 15, 2022, as "International Myotonic Dystrophy Awareness Day" was agreed to in Senate without amendment on Septebmer 29th. (c-span.org)
  • A resolution recognizing the seriousness of myotonic dystrophy and expressing support for the designation of September 15, 2022, as "International Myotonic Dystrophy Awareness Day" was agreed to in Senate without amendment on Septebmer 29th. (c-span.org)
  • In honor of International Myotonic Dystrophy Awareness Day on September 15th, our incredible partners and community members from all around the world dressed for the occasion and lit their local and national monuments in green. (myotonic.org)
  • We blanketed Capitol Hill and completed over 100 congressional meetings, spreading awareness of the seriousness of myotonic dystrophy and the urgent need for treatments and a cure. (myotonic.org)
  • Myotonic dystrophy (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. (wikipedia.org)
  • Mutation of the DMPK gene causes myotonic dystrophy type 1 (DM1). (wikipedia.org)
  • Myotonic dystrophy type 2 (DM2) is a multisystem disorder that affects many organs and systems, including the brain. (nih.gov)
  • The objective is to analyze personality patterns in myotonic dystrophy type 2 (DM2) compared to DM1 control group. (nih.gov)
  • Cardiac involvement is recorded in about 80% of patients affected by myotonic dystrophy type 1 (DM1). (nih.gov)
  • WALTHAM, Mass., Sept. 20, 2023 (GLOBE NEWSWIRE) -- Dyne Therapeutics, Inc. (Nasdaq: DYN), a clinical-stage muscle disease company focused on advancing innovative life-transforming therapeutics for people living with genetically driven diseases, today announced that the U.S. Food and Drug Administration (FDA) has granted orphan drug designation for DYNE-101 for the treatment of myotonic dystrophy type 1 (DM1). (tmcnet.com)
  • DYNE-101 is an investigational therapeutic being evaluated in the Phase 1/2 global ACHIEVE clinical trial for people living with myotonic dystrophy type 1 (DM1). (tmcnet.com)
  • CTG expansions in DMPK gene, causing myotonic dystrophy type 1 (DM1), are characterized by pronounced somatic instability. (figshare.com)
  • Abnormally long r(CUG)n repeat expansion is believed to be the major cause of Myotonic dystrophy type 1 (DM1) because it binds to muscleblind-like 1 (MBNL 1) protein which regulates RNA splicing, leading to the mis-splicing of more than 100 pre-mRNAs. (illinois.edu)
  • Myotonic dystrophy (often abbreviated as DM after its Latin name dystrophia myotonica) exists in two forms, usually referred to as type 1 or DM1 and type 2 or DM2. (treat-nmd.org)
  • Type 1 myotonic dystrophy is also sometimes called Steinert's Disease. (treat-nmd.org)
  • Myotonic Dystrophy Type 1 (DM1), a terrible, crippling, and potentially fatal condition for which there is neither a known cure nor a drug treatment in development, is the target of ATX-01. (abnewswire.com)
  • In July 2022, The New Zealand Medicines and Medical Devices Safety Authority approved Dyne Therapeutics, Inc.'s clinical trial application to begin its Phase I/II multiple ascending doses (MAD) clinical trials of DYNE-101 in patients with myotonic dystrophy type 1 (DM1), according to the company. (abnewswire.com)
  • Myotonic dystrophy type I (DM1), also known as Steinert disease, and myotonic dystrophy type II (DM2), also known as proximal myotonic myopathy, which is a milder form of DMI, are the two main forms recognised based on clinical and molecular presentation. (abnewswire.com)
  • Adding exercise to genetic treatment for myotonic dystrophy type 1 (DM1) was more effective in reversing fatigue than giving the treatment alone, as per the study in a mouse model of the disease. (medindia.net)
  • The U.S. Food and Drug Administration lifted the clinical hold and cleared PepGen's application to begin human clinical studies of its experimental therapy PGN-EDODM1 in patients with myotonic dystrophy type 1. (globalgenes.org)
  • Myotonic dystrophy type 1, or DM1 (also known as Steinert's disease), is a progressively disabling, life-shortening genetic disorder. (globalgenes.org)
  • The research study, entitled, "Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type-1 (END-DM1)", is being conducted at 20 sites around the world. (myotonic.org)
  • This study will enroll 700 people, ages 18-70, with myotonic dystrophy type 1 who are willing to travel, up to 4 times, to one of the centers below and complete the study requirements. (myotonic.org)
  • In myotonic dystrophy type 1, the repetitive expansion grows with each aggrieved generation, typically causing an earlier start and worsening symptoms. (growthplusreports.com)
  • DM 1 is the most common myotonic dystrophy type. (growthplusreports.com)
  • For instance, in December 2022, Arthrex Biotech S.A., a pre-clinical-stage biotechnology firm pioneering unique microRNA modifying approaches to diseases with significant unmet medical needs, reached major regulatory milestones in its program to develop ATX-01 in Myotonic Dystrophy Type 1 (DM1), clearing the way for the submission of an Investigational New Drug (IND) application in the United States and a Clinical Trial Application (CTA) in Europe. (growthplusreports.com)
  • Machine learning techniques can be used to process multimodal data to provide new insights on cognitive impairment in patients with myotonic dystrophy type 1 (DM1), a new study finds. (neurodiem.co.kr)
  • Brain MRI features of congenital- and adult-form myotonic dystrophy type 1: case-control study. (unisa.it)
  • To compare and characterize the magnetic resonance imaging (MRI) of brain in the congenital and adult form of myotonic dystrophy type 1, we evaluated five patients with congenital dystrophy type 1, 10 age- and 10 disease duration-matched patients with adult-form dystrophy type 1 and 20 age-matched healthy volunteers. (unisa.it)
  • In the congenital dystrophy type 1, MRI was characterized by ventriculomegaly and moderate/severe hyperintensity of white matter posterosuperior to trigones, which showed no correlation with the age. (unisa.it)
  • MRI in the adult-form dystrophy type 1 was strictly related to disease duration and varied between normal findings, except for temporo-polar white matter lesions, in age-matched patients and ventriculomegaly with white matter hyperintensities in disease duration-matched patients. (unisa.it)
  • These results suggest that the origin of MRI abnormalities in myotonic dystrophy type 1 is mainly developmental for the congenital form and mainly degenerative for the adult form. (unisa.it)
  • Peptide-conjugated antimiRs improve myotonic dystrophy type 1 phenotypes by promoting endogenous MBNL1 expression. (ox.ac.uk)
  • Myotonic dystrophy type 1 (DM1) is a rare neuromuscular disease caused by a CTG repeat expansion in the DMPK gene that generates toxic RNA with a myriad of downstream alterations in RNA metabolism. (ox.ac.uk)
  • lung function and respiratory muscle strength in subjects with Myotonic dystrophy type 1 (DM1) compared with healthy subjects . (bvsalud.org)
  • Myotonic dystrophy type 1: from DNA repeat expansion and toxic RNA to the development of new therapeutic approaches. (ern-euro-nmd.eu)
  • Mario Gomes-Pereira has been working on myotonic dystrophy type 1 (DM1) and related trinucleotide repeat expansion disorders for more than 20 years. (ern-euro-nmd.eu)
  • Arnaud Klein has been working on myotonic dystrophy type 1 (DM1) and more generally on repeat expansion diseases for nearly 20 years. (ern-euro-nmd.eu)
  • In this team, Arnaud was able to develop innovative therapeutic approaches for Myotonic Dystrophy type 1, notably using antisense oligonucleotides, and to participate in the development of several DM1 models. (ern-euro-nmd.eu)
  • Sleep apnea often affects individuals with other neuromuscular diseases, such as type 1 myotonic muscular dystrophy and Duchenne muscular dystrophy, as well. (bellaonline.com)
  • While myotonic dystrophy can occur at any age, onset is typically in the 20s and 30s. (wikipedia.org)
  • LONDON , Jan. 9, 2020 /PRNewswire/ -- AMO Pharma Limited ("AMO Pharma"), a privately held biopharmaceutical company focusing on rare, childhood-onset neurogenetic disorders with limited or no treatment options, today announced the initiation of patient enrollment in the company's planned pivotal clinical trial for AMO-02 in the treatment of congenital myotonic dystrophy. (biospace.com)
  • The AMO-02 clinical trial is a double-blind placebo controlled randomized study in children and adolescents with congenital onset myotonic dystrophy intended to support a future submission for marketing authorization in congenital myotonic dystrophy. (biospace.com)
  • AMO-02 (tideglusib) is in development for the treatment of congenital myotonic dystrophy and has potential for use in adult-onset myotonic dystrophy, additional central nervous system (CNS), neuromuscular and other orphan indications. (biospace.com)
  • Diagnosis of myotonic dystrophy is indicated by characteristic clinical findings, age at onset, and family history and is confirmed by DNA testing. (msdmanuals.com)
  • He worked under the supervision of Dr Bernard Brais to understand the pathological mechanisms leading to the Oculopharyngeal Muscular Dystrophy (OPMD), a disease characterized by a late-onset muscular dystrophy, a triplet expansion mutation in a ubiquitous gene and the formation of intranuclear aggregates. (ern-euro-nmd.eu)
  • DM2, also known as PROMM (proximal myotonic myopathy), does not have a congenital start and rarely develops in childhood. (growthplusreports.com)
  • With most dystrophies such as Duchenne, the condition tends to affect hip and shoulder muscles. (redbridgeserc.org)
  • Duchenne muscular dystrophy, which is the most common childhood form. (medlineplus.gov)
  • Becker muscular dystrophy, which is similar to Duchenne but is less severe and gets worse more slowly. (medlineplus.gov)
  • Duchenne, a French physician, initially described a condition of progressive lethal wasting of degenerative skeletal muscle, which was later referred to as Duchenne muscular dystrophy. (medscape.com)
  • In December 2022 AMO Pharma announced completion of patient enrollment in the company's REACH-CDM study of the investigational therapy AMO-02 (tideglusib) for the treatment of congenital myotonic dystrophy. (biospace.com)
  • Zimmerman, SC , Bai, Y & Kalsotra, A Feb. 08 2022, Multivalent ligand for myotonic dystrophy , U.S. Patent No. 11242326. (illinois.edu)
  • In May 2022, In response to developments in AMO Pharma's potentially crucial REACH-CDM study, a double-blind, placebo-controlled, randomised clinical trial to evaluate the efficacy and safety of AMO-02 (tideglusib) for the treatment of congenital myotonic dystrophy (CDM1), the company AMO Pharma Limited announced that its current investors have increased their investments in the business. (abnewswire.com)
  • Myotonic dystrophy affects about 1 in 2,100 people, a number that was long estimated to be much lower (often cited as 1 in 8,000), reflecting that not all patients have immediate symptoms and, once they do have symptoms, the long time it typically takes to get to the right diagnosis. (wikipedia.org)
  • Peter Ashley, Chairperson of Cure DM, a nonprofit advocacy organization representing individuals impacted by congenital myotonic dystrophy, said, "DM affects the whole body in complex ways and children with congenital DM1 are affected most severely. (biospace.com)
  • Myotonic dystrophy affects about 1/8000 in the general population. (msdmanuals.com)
  • Detailed information on myotonic muscular dystrophy, a common form of muscular disease that affects adults and children. (medindia.net)
  • It is the most common form of muscular dystrophy that begins in adulthood. (wikipedia.org)
  • Patients will be assessed on a range of measures of CNS features and muscle function associated with congenital myotonic dystrophy. (biospace.com)
  • There is no definitive information on cold weather and it's effects on patients with myotonic dystrophy vary from person to person. (myotonicdystrophy.com)
  • Exercise plus the antisense treatment provides more benefit for patients with myotonic dystrophy. (medindia.net)
  • Reduction in excess daytime sleepiness by modafinil in patients with myotonic dystrophy. (ox.ac.uk)
  • Patients with myotonic dystrophy frequently suffer from excess daytime sleepiness, which can be a significant cause of disability. (ox.ac.uk)
  • We have investigated the use of this drug in myotonic dystrophy patients with excess daytime sleepiness. (ox.ac.uk)
  • Selected patients with myotonic dystrophy and excess daytime sleepiness may benefit from modafinil. (ox.ac.uk)
  • Using digital technologies to engage with medical research: views of myotonic dystrophy patients in Japan. (ox.ac.uk)
  • METHODS: We conducted an exploratory, cross-sectional, self-completed questionnaire with a sample of myotonic dystrophy (MD) patients attending an Open Day at Osaka University, Japan. (ox.ac.uk)
  • Patients with muscular dystrophy should be managed through a clinic with access to specialties that address neuromuscular disorders, including physical therapy, occupational therapy, respiratory therapy, speech and swallowing therapy, cardiology, pulmonology, orthopedics, and genetics. (medscape.com)
  • The most prevalent form of muscular dystrophy that manifests in adulthood is myotonic dystrophy (DM), which is regarded as a subtype of myopathy. (abnewswire.com)
  • The CDM1-RS is a derivative of the Myotonic Dystrophy Health Index (MDHI) and childhood version (ccMDHI) developed by Professor Chad Heatwole and Professor Nicholas Johnson and owned and licensed by the University of Rochester. (biospace.com)
  • This blog is dedicated to my daughter Kayla, who was diagnosed at birth with congenital myotonic dystrophy (cDM1). (cureforkayla.com)
  • AMO-02 accesses brain, muscle and other tissues and reduces the DMPK expansion repeat mRNA that is the pathological basis for congenital myotonic dystrophy. (biospace.com)
  • Myotonic dystrophy is caused by a genetic mutation in one of two genes. (wikipedia.org)
  • His clinical and research interests are in the field of multisystemic neuromuscular diseases, and metabolic and myotonic myopathies. (greenmarketreport.com)
  • This is in order to obtain a muscle tissue sample in a person more severely affected with myotonic dystrophy. (uclahealth.org)
  • Severe cases of myotonic dystrophy will be noticeable at birth, and babies with this "congenital" form may have breathing and swallowing problems and be quite severely ill, needing respiratory support and a feeding tube. (treat-nmd.org)
  • The genetic change that causes the symptoms of myotonic dystrophy is present at birth, but depending on its severity, myotonic dystrophy symptoms may become noticeable at almost any age. (treat-nmd.org)
  • Unlike some other forms of muscular dystrophy where infants may not achieve motor milestones, children with congenital myotonic dystrophy who overcome their initial breathing and feeding problems can make progress and often learn to walk, but as children they may have learning difficulties and other myotonic dystrophy symptoms. (treat-nmd.org)
  • They should have treatment for any of the particular symptoms they do have - for example heart problems or diabetes - from a doctor who understands that these symptoms are related to their myotonic dystrophy. (treat-nmd.org)
  • Symptoms of myotonic dystrophy mostly begin in childhood or the adult years. (growthplusreports.com)
  • In this large research centre, he integrates the laboratory "Repeat Expansions and Myotonic Dystrophies" headed by D. Furling, and G. Gourdon. (ern-euro-nmd.eu)
  • Now, Arnaud is a researcher in the team "Repeated expansions and myotonic dystrophies" led by D. Furling, and G. Gourdon within the Centre de Recherche en Myologie (Sorbonne University, Inserm UMRS974, Institute of Myology, Paris). (ern-euro-nmd.eu)
  • According to the deep-dive market assessment study by Growth Plus Reports, the global myotonic dystrophy treatment market was valued at US$ 735.2 million in 2021 and is expected to register a revenue CAGR of 5.56% to reach US$ 1,200 million by 2030. (growthplusreports.com)
  • Loss of MBNL protein function through sequestration by CUG or CCUG RNA repeats is largely responsible for the phenotypes of the human genetic disorder myotonic dystrophy (DM). (mpg.de)
  • Adults with myotonic dystrophy may not need to see a myotonic dystrophy specialist on a regular basis, but should receive follow-up as required. (treat-nmd.org)
  • DM1 is the most common muscular dystrophy in adults, and one of several genetic conditions that cause muscle wasting and progressive weakness. (medindia.net)
  • Myotonic dystrophy (DM) is a genetic condition that is inherited in an autosomal dominant pattern, meaning each child of an affected individual has a 50% chance of inheriting the disease. (wikipedia.org)
  • Las Vegas, Nevada, United States) As per DelveInsight's assessment, globally, Myotonic Dystrophy pipeline constitutes 20+ key companies continuously working towards developing 22+ Myotonic Dystrophy treatment therapies, analysis of Clinical Trials, Therapies, Mechanism of Action, Route of Administration, and Developments analyzes DelveInsight. (abnewswire.com)
  • According to Myotonic Dystrophy Foundation, myotonic dystrophy is a rare, multi-systemic genetic condition that impacts 1 in 2,100 individuals or more than 3.6 million people globally. (growthplusreports.com)
  • Companies across the globe are diligently working toward developing novel Myotonic Dystrophy treatment therapies with a considerable amount of success over the years. (abnewswire.com)
  • Every day, we focus on helping families living with myotonic dystrophy by delivering comprehensive support resources, and driving research to accelerate the discovery of DM therapies. (myotonic.org)
  • The Myotonic Dystrophy Clinical Research Network (DMCRN) sites are currently conducting a critically-important research study designed to help drug developers successfully design clinical trials and understand how to assess the efficacy of potential therapies. (myotonic.org)
  • Based on therapeutic class, the global myotonic dystrophy treatment market is segmented into molecular-based therapies and steroid therapy. (growthplusreports.com)
  • Trial to assess AMO-02 in treatment of congenital myotonic dystrophy to begin patient enrollment in early 2020. (biospace.com)
  • Congenital myotonic dystrophy is a devastating condition that represents a significant area of unmet need in global health with few and only inadequate and unapproved treatment options available. (biospace.com)
  • As well as developing AMO-02 for congenital myotonic dystrophy, the company is progressing AMO-01 as a clinical stage treatment for Phelan McDermid Syndrome and AMO-04 as a clinic ready potential medicine for Rett Syndrome and related disorders. (biospace.com)
  • The global myotonic dystrophy treatment market is expected to experience high revenue growth during the forecast period, owing to increase in the pipeline drugs being studied in clinical trials. (growthplusreports.com)
  • The global myotonic dystrophy treatment market has been analyzed from three perspectives: therapeutic class, distribution channel, and region. (growthplusreports.com)
  • Another locus on chromosome X has also been found to cosegregate with a rare form of mitral valve prolapse called X-linked myxomatous valvular dystrophy. (medscape.com)
  • The information collected in this study will help scientists design new treatments for myotonic dystrophy, find the best way to measure whether myotonic dystrophy is getting better or worse, and determine how it changes over time. (myotonic.org)
  • What are the treatments for muscular dystrophy (MD)? (medlineplus.gov)
  • Myotonic dystrophy (DM) is a progressive multisystemic genetic disorder which is inherited as an autosomal dominant trait. (nottingham.ac.uk)
  • Myotonic dystrophy is rare, autosomal dominant muscle disorder. (msdmanuals.com)
  • People with this disorder often have prolonged muscle contractions (myotonic) and are not able to relax certain muscles after use. (news-medical.net)
  • A systematic review was conducted to investigate the pathophysiology of and diagnostic procedures for oropharyngeal dysphagia in myotonic dystrophy (MD). The electronic databases Embase, PubMed, and The Cochrane Library were used. (maastrichtuniversity.nl)
  • The Myotonic Dystrophy Pipeline report embraces in-depth commercial and clinical assessment of the pipeline products from the pre-clinical developmental phase to the marketed phase. (abnewswire.com)
  • Although no 'cure' for myotonic dystrophy exists at present, adequate care and support can do a lot to help those affected. (treat-nmd.org)
  • MDF offers a professionally staffed Warmline for people living with myotonic dystrophy, their caregivers, medical professionals and others to ask questions, find support and guidance and, when appropriate, be connected to additional resources and services. (myotonic.org)
  • These experiments demonstrate the applicability of biophysical methods to human erythrocyte membranes and support the concept of a membrane defect in myotonic dystrophy that does not have a primary myopathic, neuropathic, or vascular cause. (uky.edu)
  • Limb-girdle muscular dystrophy (LGMD) refers to a group of disorders that manifest as weakness and wasting of arm and leg muscles, with muscles of the shoulders, upper arms, pelvic area, and thighs being most frequently involved. (medscape.com)
  • Thanks to you - the Myotonic Dystrophy Foundation (MDF) community members who volunteer, donate, advocate and help fulfill our mission of Community, Care, and a Cure - MDF has become the world's largest DM-only patient advocacy organization, serving individuals and families around the world. (myotonic.org)
  • The Myotonic Dystrophy Foundation was founded by families with DM seeking to help one another and to find a cure. (myotonic.org)
  • On Thursday, September 7th, over 130 Myotonic Dystrophy Foundation advocates from 23 US states and five other countries visited Congress on Capitol Hill in Washington, D.C. to ask for more federal research funding for myotonic dystrophy. (myotonic.org)