Symptoms include gradually worsening muscle loss and weakness. Oculopharyngeal muscular dystrophy opmd is a lateonset muscle disease associated with progressive ptosis of the eyelids, dysphagia, and unique. Myotonic syndromes knowledge for medical students and. It is the most common form of muscular dystrophy that begins in adulthood, usually in a persons 20s or 30s. Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems. Swallowing disorders evaluationa and treatment richard. Recent studies on dysphagia in dmd clarify the pathophysiology of swallowing disorders and offer new tools for its assessment but little. Muscular dystrophy and myotonic dystrophy are accompanied by dysphagia, which is also the cardinal symptom of oculopharyngeal muscular dystrophy, a rare, progressive genetic disorder. Enter your mobile number or email address below and well send you a link to download the free kindle app. Swallowing disorders information page national institute. People with this disorder often have prolonged muscle contractions myotonia and are not able to relax certain muscles after use. It is a genetic disorder characterized by progressive muscle loss and weakness.
Myotonic dystrophy type 1 genetic and rare diseases. Although myotonic dystrophy cannot be cured, treatment directed at providing symptomatic relief to affected patients can be given. We do find with duchenne muscular dystrophy and other patients that. Myotonic dystrophy type 1 dm1 and myotonic dystrophy type 2 dm2 are autosomal dominant, multisystem disorders characterized by skeletal muscle weakness and myotonia, cardiac conduction abnormalities, iridescent cataracts, and other abnormalities. While myotonia involuntary muscle contraction with delayed relaxation has been. Dysphagia is a common symptom that may be difficult to diagnose and treat and can be associated with increased morbidity and mortality. The disease development and progression resembles dm1, however, unlike dm1, dm2 does not exhibit anticipation the tendency of the disease to become more severe with successive generations. Myotonic dystrophy type 2 dm2, mim 602668 is a dominantly inherited multisystem disorder characterized by progressive proximal muscle weakness, myotonia, cataracts, cardiac arrhythmia, and muscle pain. Myotonic muscular dystrophy is one of the types of muscular dystrophy, and the symptoms often resemble those of the other muscular dystrophies. Myotonic syndromes are a heterogenous group of inherited disorders with similar pathological mechanisms. Department of health sciences, fernando pessoa university, portugal. Muscular dystrophy slt expert providers of speech and. In dm1, many of the involuntary muscles that surround the hollow organs can weaken.
Orofacial strength, dysarthria, and dysphagia in congenital myotonic. Myotonic dystrophy type 1 dm1 is a multisystem disorder that affects skeletal. Myotonic dystrophy causes your muscles to become stiff when you use them. Myotonic dystrophy dm is a musculoskeletal disorder that affects the muscles and a number of different organs in the body. Myotonic dystrophy dm1, also known as steinerts disease and dystrophia myotonica, is another common form of md. Having trouble swallowing dysphagia is a symptom that.
The myotonic dystrophy foundation mdf recruited clinicians from the united states, united kingdom, canada, and europe who have experience in the treatment of individuals living with dm1 to develop consensusbased care recommendations. A long, thin face with hollow temples, drooping eyelids and, in men, balding in the front, is typical in myotonic dystrophy the use of a portable. This look sets us apart from our friends with myotonic dystrophy type 2, and of course. Duchenne muscular dystrophy dmd is a rapidly progressive neuromuscular disorder causing weakness of the skeletal, respiratory, cardiac and oropharyngeal muscles with up to one third of young men reporting difficulty swallowing dysphagia. Dm is the most common form of muscular dystrophy that begins in adulthood, usually in the 20s or 30s. This study is designed to investigate the prevalence of dysphagia and to identify different clinical profiles of swallowing disorders in myotonic dystrophy type 1 dm1 and amyotrophic. An ordinary day, portrays kids with rare genetic diseases. Congenital muscular dystrophy is a collective term used to describe the symptoms of muscular dystrophy in babies and children. The pathomechanism of myotonic dystrophy has long been unclear, but in the pas. Ongoing assessments of walking, swallowing, breathing and hand function enable the treatment team to adjust treatments as the disease progresses. Myotonic dystrophy support group helpline 0115 987 0080 what options are available to help with my swallowing. Dysphagia is present but mild in myotonic dystrophy type 2. This disease is characterized by progressive muscle loss and weakness. Then you can start reading kindle books on your smartphone, tablet, or computer.
Swallowing difficulty refers to additional effort and time needed to chew food and move food or liquid around the mouth and down into the stomach. It can later be removed if the problem resolves itself. Myotonic dystrophy type 1 is caused by a ctg repeat expansion in the 3. Myotonic dystrophy type ii dm2 also known as proximal myotonic myopathy is a milder and more rare form of myotonic dystrophy. Dm2, earlier known as proximal myotonic myopathy promm is caused by a cctg expansion in intron 1 of the znf9 gene on chromosome 3q21. Myotonic dystrophy dm1, a genetic, multisystemic disorder, is the most prevalent adult form of muscular dystrophy. Myotonic dystrophy is a longterm genetic disorder that affects muscle function.
He has received research support from the muscular dystrophy association. Corticosteroids, such as prednisone and deflazacort emflaza, which can help muscle strength and delay the progression of certain types of muscular dystrophy. It is worth noting that myotonia only occurs in this form of muscular dystrophy. It is characterized by prolonged muscle tensing myotonia as. Myotonic dystrophy genetic and rare diseases information. It also causes your muscles to have difficulty relaxing. Associated problems with other organs of the body, for example, which does not occur in the other. These include the muscles of the digestive tract, uterus, and blood vessels. Ocular myasthenia gravis without waxing and waning of symptoms may produce weakness in. Myotonic dystrophy type 1 dm1 is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. If swallowing difficulties are extreme more common in congenital mmd than in adults with mmd, a feeding tube can be inserted into the stomach. The digestive tract and uterus womb often are affected in type 1 myotonic dystrophy. Gastrointestinal manifestations in myotonic muscular dystrophy. Both types, myotonic dystrophy type i curschmannsteinert disease and myotonic dystrophy type ii proximal myotonic myopathy, are.
Disease mechanism, current management and therapeutic development. Mild cases of myotonic dystrophy do not require any treatment. Facts about myotonic muscular dystrophy md australia. Myotonic dystrophy is part of the group of muscular dystrophies. Dm type 1 dm1 can be further classified as mild dm1, classic dm1 and congenital dm1. Myotonic dystrophy type 1dm1, also called steinert syndrome, is a multisystemic disorder transmitted in an autosomal dominant manner, characterized by myotonia. Myotonic dystrophy the facts and millions of other books are available for amazon kindle. Consensusbased care recommendations for adults with. Because the myotonic dystrophy is characterized with myotonia and the oculopharyngeal muscular dystrophy opmd. There are several signs that a person may have dysphagia. Myotonic dystrophy dm muscular dystrophy association. This book chapter is open access distributed under the creative commons attribution 4. There are a small number of published research studies looking at the benefitsof exercise, surgery and drug treatments for improving swallowing function in muscle disease. Myotonic is also known as dystrophia myotonica or steinerts disease and causes myotonia which is the inability to relax muscles once they contract.
The term muscular dystrophy means progressive muscle degeneration, with weakness and shrinkage of the muscle tissue. Treatment for dysphagia a discussion of the signs and symptoms of dysphagia, a swallowing disorder, as well as the different muscles that can be affected by this dm symptom. The histopathological features of muscular dystrophies. The pathomechanism of myotonic dystrophy has long been unclear, but in the past decade, our understanding has shifted to a novel disease mechanism concept. This book provides an overview combining both clinical and fundamental research advances in myotonic dystrophy.
Myotonic dystrophy disease mechanism, current management. Smooth muscle involvement may produce dysphagia, constipation, intestinal. Also, symptoms such as colicky abdominal pain, bloating, constipation, and diarrhea are common. Many of us with myotonic dystrophy type 1 dm1 have a look i didnt have the look when i was first diagnosed in my mid30s, but over the last 18 years ive lost facial muscle tone as well as a lot of weight. Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. Other symptoms may include cataracts, intellectual disability and heart conduction problems. Myotonic dystrophy refers to two rare genetic disorders of muscle that actually.
Photography book, an ordinary day, portrays kids with. Myotonic dystrophy type 1 dm1 and myotonic dystrophy type 2. Health care industry caregivers practice deglutition disorders care and treatment medical research medicine, experimental myotonic dystrophy precision medicine research. Richard westons myotonic dystrophy blog information. Dysphagia may result in aspiration pneumonia, an infection that develops. By the age of 10 children usually use a wheelchair. Muscular dystrophy diagnosis and treatment mayo clinic.
Myotonic dystrophy type 2 genetic and rare diseases. This book provides an essential overview combining both clinical and fundamental research advances in myotonic dystrophy. Dm type 2 dm2 causes similar symptoms to dm1, but is generally a less. Myotonic dystrophy nord national organization for rare. Excessive daytime sleepiness cataracts dysphagia and nutrition. People who have myotonic dystrophy have muscle wasting and weakness in their lower legs, hands, neck and face that get worse over time. Myotonia, or an inability to relax muscles following a sudden contraction, is found only in this form of md, but is also found in other nondystrophic muscle diseases. Proceeds from sales will go to fund research on treatments for rare genetic diseases. Myotonic dystrophy may be further classified into two types, and the two types may affect different muscles. Myotonic dystrophy is a disease that affects the muscles and other body systems. The disorder is abbreviated dm, which is for dystrophia myotonia. Myotonic dystrophy is an inherited disease that leads to muscle weakness and loss. The clinical findings, which span a continuum from mild to severe, have been categorized into three somewhat overlapping phenotypes. Drooling of saliva is reported in some nmds, but especially in myotonic dystrophy, congenital myopathy, and pompe disease.
Myotonic dystrophy type 2, one of the two types of myotonic dystrophy, is an inherited muscular dystrophy that affects the muscles and other body systems e. Myotonic dystrophies, the most prevalent myotonic syndromes, are one of the most common forms of adultonset muscular dystrophy. Myotonic dystrophy is characterized by progressive muscle wasting and weakness. Oral motor movements and swallowing in patients with myotonic. Oculopharyngeal muscular dystrophy an overview sciencedirect. Myotonic dystrophy type 2 is caused by an intronic cctg repeat expansion in the cnbp gene.
Myotonic dystrophy inpatient care what you need to know. It is present for many depths of a patients life and has many attendant implications. Efficacy and tolerability of a 20mg dose of methylphenidate for the treatment of daytime sleepiness in adult patients with myotonic dystrophy type 1. Myotonic dystrophy type 1 is the most common form of muscular dystrophy.
Myotonic dystrophy type 1 md1, one of the two types of myotonic dystrophy, is an inherited type of muscular dystrophy that affects the muscles and other body systems e. Youve reached this site as you may be the one of nearly one million people affected by myotonic dystrophy worldwide. Overall, there are nine types of muscular dystrophy and while they all cause muscle weakness, their symptoms differ slightly from each other, and they are each caused by different genetic defects. Myotonic dystrophy refers to two rare genetic disorders of muscle that actually affect multiple systems of the body. 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, insulininsensitive type 2 diabetes mellitus, and other endocrine abnormalities. Teepu siddique, in textbook of clinical neurology third edition, 2007. It is the commonest inherited muscular dystrophy and has a profound effect on indviduals who are diagnosed with the disease and their families.
1032 1636 1570 1223 537 1151 536 1564 1004 490 286 245 1390 1239 339 547 56 44 890 640 1 990 243 281 1089 1264 1150 879 1479 761 612 1334