Methods Patients with DM2 were included prospectively in an international cross-sectional study. Information provided by Dr Chris Turner Consultant Neurologist, National Hospital of Neurology & Neurosurgery, London. Do you have updated information on this disease? Both types, myotonic dystrophy type I (Curschmann-Steinert disease) and myotonic dystrophy type II (proximal myotonic myopathy), are autosomal dominant conditions with CTG trinucleotide repeat and CCTG tetranucleotide repeat expansions respectively. You may want to review these resources with a medical professional. Myotonic muscular dystrophy is of two types – Type 1 and Type 2. This factsheet will refer to only myotonic dystrophy type 1 apart from the section specific to myotonic dystrophy type 2. © Myotonic Dystrophy Support Group 2016 | Privacy Policy | Terms & Conditions. myotonic dystrophy type 1 (DM1) myotonic dystrophy type 2 (DM2) We have further factsheets on: congenital myotonic dystrophy the myotonic dystrophies. It is milder than Type 1 but involves similar type of weakness in the muscles of regions like shoulders, neck, elbows and hips. We want to hear from you. (HPO). (HPO) . Myotonic dystrophy type 2 is characterized by progressive muscle wasting and weakness. DM2 is an important diagnosis to consider in patients who have proximal muscle weakness around the shoulders and pelvis or a “limb-girdle weakness”. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. DM2 patients less commonly require walking aids than in DM1. This includes cardiorespiratory, ocular and endocrine screening as well as discussion of bowel symptoms and genetic counselling. DM2 is a similar disease to DM1 in that it affects many organs including muscle and is caused by a similar genetic problem but affects a different gene. Congenital myotonic dystrophy has only been seen in Type 1 myotonic dystrophy and not in Type 2. Muscle weakness in type 2 primarily involves muscles close to the center of the body (proximal muscles), such as the those of the neck, shoulders, elbows, and hips. Get the latest research information from NIH: https://www.nih.gov/coronavirus (link is external). DM2 is a multi-system disorder characterised by an inability to relax muscles once they have contracted or “myotonia” and muscle weakness. Multi-Systemic and Cognitive Aspects of Myotonic Dystrophy Type 2 Presented during Myotonic's Friday Afternoon Webinar Series . Myotonic dystrophy type 1 is caused by mutations in the DMPK gene, while type 2 results from mutations in the CNBP gene. This section first addresses medical management of the many symptoms of adult-onset DM1/DM2 and childhood-onset DM1. Myotonic dystrophy is the most common form of muscular dystrophy that begins in adulthood. Myotonic dystrophy type 2 (DM2) is a multisystemic disorder caused by a (CCTG)n repeat expansion in intron 1 of CNBP. Myotonic dystrophy type 1 (DM1, Steinert’s disease) is caused by a (CTG) n expansion in DMPK, while myotonic dystrophy type 2 (DM2) is caused by a (CCTG) n expansion in CNBP. The disorder is further subdivided into two distinct entities, myotonic dystrophy type 1 and type 2 (DM1 and DM2, respectively). Myotonic dystrophy type 2 (DM2) is characterized by myotonia and muscle dysfunction (proximal and axial weakness, myalgia, and stiffness), and less commonly by posterior subcapsular cataracts, cardiac conduction defects, insulin-insensitive type 2 diabetes mellitus, and other endocrine abnormalities. Type 1, Type 2. Myotonic dystrophy, Type 2 (DM2): Late. This condition is marked by muscle fatigue affecting different regions of the body, such as hands, face, neck and lower legs. They can direct you to research, resources, and services. (2010) Myotonic dystrophy type 2 (DM2) and related disorders report of the 180th ENMC workshop including guidelines on diagnostics and management 3-5 December 2010, Naarden, The Netherlands. This mutation increases in size of the repeated CCTG segment in the CNBP gene. Myotonic Dystrophy Type 2. MYOTONIC DYSTROPHY TYPE 2 (DM2) The onset of DM2 is typically in the third decade, but anywhere between the second and sixth decade of life is common. Congenital myotonic dystrophy has only been seen in Type 1 myotonic dystrophy and not in Type 2. Well as discussion of bowel symptoms and minimizing disability cardiac conduction defects, posterior sub-capsular cataracts and diabetic changes also. Minimizing disability into two distinct entities, myotonic dystrophy are caused by a defect of the ZNF9 on. 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