• 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)
  • The Company anticipates that proceeds from the collaboration, equity investment and achievement of certain milestones, together with its existing cash, cash equivalents and marketable securities will extend its cash runway into the second half of 2025, supporting the Company's expansion and continued development of EEV-therapeutic candidates targeting Duchenne muscular dystrophy as well as other indications beyond neuromuscular diseases. (entradatx.com)
  • The Company's lead oligonucleotide programs include ENTR-601-44 and ENTR-601-45 for the potential treatment of people living with Duchenne who are exon 44 and 45 skipping amenable, respectively, as well as ENTR-701 targeting myotonic dystrophy type 1 (DM1). (entradatx.com)
  • Gene therapy trial to assess a microdystrophin (abbreviated version of the Duchenne muscular dystrophy gene) associated with an AVV vector. (afm-telethon.fr)
  • This drug, used in oncology for almost 40 years, is assessed in Duchenne muscular dystrophy, following preclinical studies supported by the AFM-Telethon. (afm-telethon.fr)
  • Also, advances in therapy and therapeutical trials are presented in Duchenne and other muscular dystrophies, and some novel treatments in glycogen storage disease by enzyme replacement are proposed. (novapublishers.com)
  • Sleep apnea often affects individuals with other neuromuscular diseases, such as type 1 myotonic muscular dystrophy and Duchenne muscular dystrophy, as well. (bellaonline.com)
  • The company announced new non-human primate (NHP) data demonstrating durability of response through 12 weeks for ENTR-601-44, an EEV-conjugated phosphorodiamidate morpholino oligomer (PMO) for the potential treatment of people with Duchenne muscular dystrophy (DMD) who are exon 44 skipping amenable. (parentprojectmd.org)
  • We are proud to present new data at TIDES USA for our lead clinical candidate, ENTR-601-44 for Duchenne muscular dystrophy, and to announce our clinical candidate for myotonic dystrophy type 1 as we continue to expand our pipeline of EEV therapeutics," said Natarajan Sethuraman, PhD, Chief Scientific Officer of Entrada. (parentprojectmd.org)
  • Duchenne muscular dystrophy is a rare, genetic disease that causes progressive muscle degeneration and weakness throughout the body. (parentprojectmd.org)
  • In non-human primates, DYNE-101 demonstrated a favorable safety profile and achieved enhanced muscle distribution as evidenced by significant reduction in wild-type DMPK RNA. (tmcnet.com)
  • CTG expansions in DMPK gene, causing myotonic dystrophy type 1 (DM1), are characterized by pronounced somatic instability. (figshare.com)
  • Mutation of the DMPK gene causes myotonic dystrophy type 1 (DM1). (wikipedia.org)
  • 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)
  • DM type1 is caused by an expansion of a CTG repeat located in the 3' untranslated region of the DMPK gene on chromosome 19q13.3, whereas DM type 2 is caused by a CCTG expansion in intron 1 of ZNF9 gene located on chromosome 3q. (nottingham.ac.uk)
  • DM1 (but not Duchennes muscular dystrophy) results from a genetic error that causes expansion of a region of a particular gene, called DMPK. (illinois.edu)
  • Type 1 DM (DM1) involves expansion of a CTG trinucleotide repeat of the DMPK gene located on chromosome 19. (msdmanuals.com)
  • CTG repeat lengths of the DMPK gene in myotonic dystrophy patients compared to healthy controls in Thailand. (cdc.gov)
  • Genetic Variability and Structure of SNP Haplotypes in the DMPK Gene in Yakuts and Other Ethnic Groups of Northern Eurasia in Relation to Myotonic Dystrophy]. (cdc.gov)
  • 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 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)
  • 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)
  • 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)
  • Metformin (N,N-dimethyl-biguanide) for Steinert myotonic dystrophy. (afm-telethon.fr)
  • 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)
  • Myotonic dystrophy (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. (wikipedia.org)
  • Myotonic dystrophy is caused by a genetic mutation in one of two genes. (wikipedia.org)
  • 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)
  • Myotonic dystrophy type 1, or DM1 (also known as Steinert's disease), is a progressively disabling, life-shortening genetic disorder. (globalgenes.org)
  • Myotonic dystrophy (DM) is a progressive multisystemic genetic disorder which is inherited as an autosomal dominant trait. (nottingham.ac.uk)
  • Muscular dystrophy (MD) is a group of more than 30 genetic diseases . (medlineplus.gov)
  • Repositorio Salud Andalucía: Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients. (repositoriosalud.es)
  • 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)
  • DM1 is the most common muscular dystrophy in adults, and one of several genetic conditions that cause muscle wasting and progressive weakness. (medindia.net)
  • Two types are recognized, with different genetic loci. (msdmanuals.com)
  • Analysis of Single Nucleotide Polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patients. (cdc.gov)
  • Limb-girdle muscular dystrophy refers to a group of genetic disorders that cause progressive weakness and wasting of the skeletal muscles, predominantly around the shoulders and hips. (medscape.com)
  • Muscle biopsy and genetic testing are the most important tools used in the diagnostic evaluation of patients in whom limb-girdle muscular dystrophy (LGMD) is suspected. (medscape.com)
  • 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)
  • It is the most common form of muscular dystrophy that begins in adulthood. (wikipedia.org)
  • CHAMPAIGN, Ill. - Efforts to treat myotonic dystrophy type 1, the most common form of muscular dystrophy, are in their infancy. (illinois.edu)
  • 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)
  • Mutation of CNBP gene causes type 2 (DM2). (wikipedia.org)
  • There are different gene changes that cause each type of MD. And sometimes people who have the same type of MD can have different gene changes. (medlineplus.gov)
  • 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)
  • The preclinical development of a gene therapy by another type of candidate drug (morpholino antisense oligonucleotides) for the exon 53 skipping enable the launch of a phase I/II human clinical trial, the SRP-4053 trial (Skip-NMD) whose results have been published. (afm-telethon.fr)
  • Phenotype annotations for a gene are curated single mutant phenotypes that require an observable (e.g., "cell shape"), a qualifier (e.g., "abnormal"), a mutant type (e.g., null), strain background, and a reference. (yeastgenome.org)
  • Type 2 DM (DM2) is milder and involves a CCTG repeat expansion mutation of the cellular nucleic acid binding protein gene CNBP (previously known as ZFN9) on chromosome 3q21.3. (msdmanuals.com)
  • CTG repeats at the myotonic protein kinase gene in a healthy Chilean population sample. (cdc.gov)
  • MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1. (cdc.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)
  • " Myotonic Dystrophy Pipeline Insight, 2023 " report by DelveInsight outlines comprehensive insights into the present clinical development scenario and growth prospects across the Myotonic Dystrophy Market. (abnewswire.com)
  • Detailed information on myotonic muscular dystrophy, a common form of muscular disease that affects adults and children. (medindia.net)
  • Cardiac involvement is recorded in about 80% of patients affected by myotonic dystrophy type 1 (DM1). (nih.gov)
  • 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)
  • 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)
  • The body of literature on pathophysiology of swallowing in dysphagic patients with MD type 1 remains scant. (maastrichtuniversity.nl)
  • These are discussed in detail and recommendations for further research on diagnostic examinations for swallowing disorders in patients with MD type 1 are provided. (maastrichtuniversity.nl)
  • 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)
  • 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)
  • Exercise plus the antisense treatment provides more benefit for patients with myotonic dystrophy. (medindia.net)
  • This study, carried out by researchers at the Massachusetts General Hospital (MGH) and collaborators, has implications for patients who experience fatigue due to genetics-related musculoskeletal diseases as well as other types of illness-induced fatigue. (medindia.net)
  • There is no definitive information on cold weather and it's effects on patients with myotonic dystrophy vary from person to person. (myotonicdystrophy.com)
  • High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany. (cdc.gov)
  • Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype. (cdc.gov)
  • Facioscapulohumeral muscular dystrophy, which often starts in the teenage years. (medlineplus.gov)
  • Myotonic dystrophy type 2 (DM2) is a multisystem disorder that affects many organs and systems, including the brain. (nih.gov)
  • 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)
  • Schwartz said this was "due to myotonic dystrophy type II," an inherited muscular dystrophy that affects the muscles and other body systems, such as the heart. (politifact.com)
  • Schwartz said he died from recurrent ventricular tachycardia due to myotonic dystrophy type II, a disorder that affects the heart. (sky.com)
  • Myotonic dystrophy affects about 1/8000 in the general population. (msdmanuals.com)
  • Both types affect voluntary muscles, and DM1 also affects involuntary muscles (eg, of the gastrointestinal tract, uterus). (msdmanuals.com)
  • OTAEGUI, D. Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1. (bvsalud.org)
  • Repeat-primed PCR showed stable structures of different types and patterns of repeat interruptions in blood cells over time and buccal cells. (figshare.com)
  • 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)
  • Brain MRI features of congenital- and adult-form myotonic dystrophy type 1: case-control study. (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)
  • Myotonic dystrophy type 1 (DM1) is the most common adult muscular dystrophy and presents an autosomal dominant inheritance. (repositoriosalud.es)
  • fiaiweb.com/wp-content/uploads/2017/02/casos-myotonic-dystrophy. (vdocuments.net)
  • As of 2017, there are 34 types of LGMD detailed in the OMIM database. (medscape.com)
  • Gilbert Gottfried died from a heart problem caused by an inherited muscular dystrophy disease. (politifact.com)
  • The company's lead research program addresses myotonic dystrophy type I, a disease with no approved treatment options. (cooley.com)
  • In some types of neuromuscular disease, problems in the digestive tract, central nervous system, or autonomic nervous system may also contribute to sleep issues. (bellaonline.com)
  • Modelling and inference reveal nonlinear length-dependent suppression of somatic instability for small disease associated alleles in myotonic dystrophy type 1 and Huntington disease. (cdc.gov)
  • Namuscla® (mexiletine) for myotonic syndromes (dystrophic and non-dystrophic). (afm-telethon.fr)
  • 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)
  • 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)
  • There are two subtypes of the disorder, DM type 1 and DM type 2. (nottingham.ac.uk)
  • Myotonic dystrophy is rare, autosomal dominant muscle disorder. (msdmanuals.com)
  • 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)
  • 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)
  • 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)
  • Even within the same type of MD, people can have different symptoms. (medlineplus.gov)
  • 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)
  • Entrada also announced its second clinical candidate, ENTR-701, an EEV-PMO that the company is developing as a potential allele-specific treatment for people living with myotonic dystrophy type 1 (DM1). (parentprojectmd.org)
  • 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)
  • Myotonic Dystrophy Type 1 and Type 1 Brugada pattern: Brugada phenocopy or Brugada syndrome? (vdocuments.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)