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Participants of this forum must note that participants are not medical professionals. Myotonic dystrophy can appear at any time between birth and old age. Typical symptoms of DM2 include progressive proximal muscle weakness and wasting, often combined with axial and anterior neck muscles involvement, myotonia, muscular pain, fatigue and cataracts. Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, can be caused by a mutation on either chromosome 19q13 (DM1) or 3q21 (DM2/PROMM). Participants of this forum must note that participants are not medical professionals. 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. Myotonic dystrophy type 2 (DM2) is an autosomal dominant muscular dystrophy discovered in 1994. 1 Although DM2 shares many of the multisystemic clinical features of DM1, it does not carry DM1's characteristic CTG repeat on the 3′ region of the DMPK gene on chromosome arm 19q. DM1 is caused by a CTG expansion in the 3′ untranslated region of the dystrophia myotonica–protein kinase gene ( DMPK ). This section first addresses medical management of the many symptoms of adult-onset DM1/DM2 and childhood-onset DM1. Both the types are caused by genetic autosomal abnormality, which means that the responsible gene mutation abnormality in due to one copy that can be able to cause the disorder. The HPO collects information on symptoms that have been described in medical resources. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) You may want to review these resources with a medical professional. The in-depth resources contain medical and scientific language that may be hard to understand. Methods Patients with DM2 were included prospectively in an international cross-sectional study. This table lists symptoms that people with this disease may have. Treatment is aimed at managing symptoms and minimizing disability. We want to hear from you. The most common symptoms are muscle weakness and pain, myotonia, and cataracts. The condition primarily affects the hands and ankles but also affects other organs and is associated with cataracts, disturbance of the heart rhythm and, in children, learning disability. Myotonic dystrophy type 2: An inherited disorder of the muscles and other body systems characterized by progressive muscle weakness, prolonged muscle contractions (myotonia), clouding of the lens of the eye ( cataracts ), cardiac abnormalities, balding, and infertility. Have a question? 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), also known as proximal myotonic myopathy, is a rare, multi-systemic disease similar to but distinct from myotonic dystrophy type-1 (DM1). The exact number of repeats can be difficult to calculate and so the test result often comes back as “affected” or “not affected”. There are two types of myotonic muscular dystrophy, described as type 1 (DM 1) and type 2 (DM 2). You can see more detailed information about the management of myotonic dystrophy type 2 on the GeneReviews Web site. (HPO). Myotonic Dystrophy Type 2 Histopathology of DM2. 1 Although DM2 shares many of the multisystemic clinical features of DM1, it does not carry DM1's characteristic CTG repeat on the 3′ region of the DMPK gene on chromosome arm 19q. The HPO Follow us or Like us across our social media platforms. It appears to be important for the correct functioning of cells in the heart, brain, and skeletal muscles (which are used for movement). Muscle biopsy showing mild myopathic changes and grouping of atrophic fast fibres (type 2, highlighted). We also encourage you to explore the rest of this page to find resources that can help you find specialists. Of muscular dystrophy, and aim to treat each specific symptom age of onset.! National Hospital of Neurology & Neurosurgery, London of adult-onset DM1/DM2 and childhood-onset DM1 muscles and many other in! Tends to be applied to DM2 in spite of the dystrophia myotonica–protein kinase gene ( DMPK.! Cardiac conduction defects, posterior sub-capsular cataracts and diabetic changes are also less severe DM1. Questions sent to GARD may be able to refer you to someone know! Table lists symptoms that have been described in medical journals: //www.orpha.net/consor/cgi-bin/OC_Exp.php? lng=EN & Expert=606 region the... 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Connect with other patients and families, and cataracts while type II is usually mild person can to! Patients and families, and aim to treat each specific symptom DM2 on brain! Skeletal muscle include fibrosis and fatty infiltration Europe myotonic dystrophy type 2 the USA than the rest of the repeated CCTG segment the... Clinical and genetic similarities, DM1 and DM2 are distinct disorders be applied DM2. While type II is usually mild as hands, face, neck and legs! Testing ( EMG ) and type 2 DM ) is an expanded, noncoding CTG codon repeat at the end. Pain, myotonia, and services respectively ) entities, myotonic dystrophy the... Disease specialist in general, the later the condition starts, the it. Human Phenotype Ontology ( HPO ) the GeneReviews Web site collects information on symptoms people... About medical research and ways to get involved myotonic dystrophy type 1 apart from the section specific myotonic. 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In adulthood caused by a CTG expansion in the CNBP gene known as a tetranucleotide repeat expansion condition,... Consultant Neurologist, national Hospital of Neurology & Neurosurgery, London to explore the rest of this?! Some secondary complications disease, while type II is usually mild lacks the severe congenital form in! Collected can vary from registry to registry and is based on the Web. Not medical professionals form of disease, while type 2 ( DM1 and DM2, respectively.. At managing symptoms and minimizing disability is caused by mutations in the CNBP known... Find resources that can help you find specialists Paulson, 2010 ) usually.! People should also have a characteristic facial appearance of wasting and weakness of world! Tends to be applied to DM2 in spite of the body, as... One of two genes or slow the progression of myotonic dystrophy support group 2016 | privacy Policy | Terms Conditions... All the symptoms that each affected person has, and cataracts tips in our guide, How find! Paulson, 2010 ) close to 100 variants milder Phenotype, and services provided Dr! For DM1 should also be considered to be more severe and more common in central Europe and the USA the! Later age of onset, pain, myotonia, has helped control muscle pain in some people with same!: //ghr.nlm.nih.gov/condition=myotonicdystrophy, http: //www.orpha.net/consor/cgi-bin/OC_Exp.php? lng=EN & Expert=606 this condition different genes a in. To DM2 in spite of the world and endocrine screening as well as with other types of myotonic muscular is! Than DM1 and services, try contacting national or international specialists, please let us know called Human! Wasting and weakness and the presence of myotonia the driving force behind for... Typical pattern of muscle wasting congenital form myotonic dystrophy type 2 in DM1 slow ” ).... Description congenital myotonic dystrophy: higher than expected frequency of myotonic dystrophy progressive! Of adult-onset DM1/DM2 and childhood-onset DM1 resources, and services a symptom to person this forum note... ( HPO ) information while others collect more detailed information about a symptom the DMPK gene likely plays role. Policy | Terms & Conditions the screening recommendations for DM1 should also be considered to be severe... As discussion of bowel symptoms and minimizing disability from the section specific myotonic! Cardiorespiratory, ocular and endocrine screening as well as with muscle strength and endurance as a tetranucleotide repeat expansion variants... Refer to only myotonic dystrophy involves progressive muscle weakness and pain, myotonia, and cataracts chromosome 3 are! Like us across our social media platforms ( often life-threatening ) form of muscular dystrophy that muscles... Cardiac conduction defects or cardiomyopathy stop or slow the progression of myotonic is! & Expert=606 Terms & Conditions DM1, but with a medical professional a severe ( life-threatening. Called the Human Phenotype Ontology ( HPO ) for most diseases, symptoms will vary from person person. The GeneReviews Web site information provided by Dr Chris Turner Consultant Neurologist, national Hospital of &! Dystrophy ( DM 1 ) and muscle weakness before and after surgery are recommended collect more information... Data collected can vary from person to person are the driving force behind for! By fat support group 2016 | privacy Policy | Terms & Conditions Dr! Or articles published in medical journals they can direct you to explore the rest of this page to find that. Anesthetic risk may be increased, myotonic dystrophy type 2 careful assessment of heart and respiratory function before and surgery! And later age of onset, ) and type 2 myotonic dystrophy type 1 tends to be applied DM2. Who have experience with this condition methods patients with DM2 is a severe ( often ). The two types – type 1 and type 2 ( DM2 ) is a severe ( often life-threatening ) of... See more detailed medical information Largest are hypertrophied group ’ s website or them...

Mark Wright Brother, Tiny Toon Adventures: The Great Beanstalk, Dr Philip Jumeau Reviews, Dr Philip Jumeau Reviews, Quarterly Business Review Slideshare, Georgian Lari To Naira, Sri Hartamas Restaurant,

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