Muscles farther from the center of the body, like the muscles of the lower legs and forearms, are known as distal muscles. Myotonic muscular dystrophy often is known simply as myotonic dystrophy and. Paramyotonia congenita is a genetic disorder that affects the way your muscles work. Written by a panel of world authorities, this comprehensive text is the only book of its kind, covering the full range of neuromuscular diseases seen in children. Paramyotonia congenita nord national organization for rare. Here you can read posts from all over the web from people who wrote about myotonic dystrophy and trouble swallowing, and check the relations between myotonic dystrophy and trouble swallowing. May 17, 2016 severe dysphagia may occur in the immune mediated necrotizing myopathies imnm. Neuromuscular stimulation doesnt aid dysphagia patients. In muscular dystrophy patients, the pathologic states of dysphagia that develop differ depending on whether the dysphagia is a complication of duchenne muscular dystrophy dmd or of myotonic dystrophy md. Despite broadened treatment for pneumonia and undergoing bronchoscopy, he failed extubation three times during a very long hospital course. It has been estimated that neurogenic dysphagia develops in approximately 400,000 to 800,000 people per year, and that dysphagia is present in roughly 50% of inhabitants of longterm care units. There are several signs that a person may have dysphagia. To investigate symptoms of dysphagia in dmd and to determine the.
Managing dysphagia parent project muscular dystrophy. Swallowing problems dysphagia can cause dehydration, weight loss, and malnutrition. Clinical diagnostic steps are summarized when you see myotonic patients. Dysphagia is common and underdiagnosed in myotonic dystrophy dm1, leading to nutritional derangement and abingestis pneumonia. Dysphagia in neuromuscular diseases approaches the subject in a unique manner, allowing clinicians to develop insights into diseases, syndromes, and neurological conditions that extend even beyond those specifically addressed in the text.
Umemoto g1, furuya h, kitashima a, sakai m, arahata h, kikuta t. Neuromuscular disorders of infancy, childhood, and. There is currently no cure or specific treatment for myotonic dystrophy. Problems with chewing and swallowing are known as dysphagia. Dysphagia in neuromuscular diseases clinical dysphagia. A feeding disorder refers to problems in the development of feeding skills, such as sucking from breast or bottle, eating from a spoon, chewing, or drinking from a cup, while a swallowing disorder, or dysphagia, refers to problems in one or more phases of the swallowing process. Dysphagia in duchenne muscular dystrophy versus myotonic. The muscular dystrophy oculopharyngeal myopathology is a hereditary autosomal dominant, lateonset, with clinical signs of ptosis and oral pharyngeal dysphagia, this may be associated to the proximal muscle weakness.
Weakness in the lips, tongue and throat can cause problems. This problem can be resolved with a type of surgery called a frontalis sling performed by an oculoplastic surgeon. A case report of autoimmune necrotizing myositis presenting. For more on the medical management and pathophysiology of opmd, see in focus.
For more information please consult the mdf living with. Treatment of dysphagia in oculopharyngeal muscular. Pdf myotonic dystrophy dm1 is the most prevalent muscular dystrophy occurring in adulthood. Exercise based therapy for the treatment of dysphagia. Dmd is clinically characterised by progressive muscle weakness leading to loss of ambulation by years of age. Dysphagia is present but mild in myotonic dystrophy type 2. Treatment of dysphagia in oculopharyngeal muscular dystrophy.
Progressive eyelid ptosis, followed by dysphagia and proximal limb weakness are the clinical findings. The epidemiology of dm is examined in the first chapter of this book as well as potential therapeutic strategies. Speech and language pathologist, stanford health care. Aug 03, 2014 dysphagia in children and young adults with neuromuscular disorders nmd is an important clinical issue, resulting in malnutrition, dehydration andor aspiration pneumonias. Therefore, assessment and treatment recommendations are important to improve safe and efficient feeding management. Clinical use and application of guardian the guardian way is a fundamentally di. Results published in this journal suggest that 93% of extubated patients with neuromuscular disease had postextubation dysphagia. 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.
This muscle wasting generally presents much more of a problem to people with mmd than does the myotonia. This study examines the speech therapy conduct in a. Consequently, those complications including heart problems, stroke, seizures, migraines, deafness and diabetes have highly effective treatments including medications, dietary modifications and lifestyle changes. New classification and treatment for myotonic disorders. Oct 16, 2008 treatment of dysphagia in oculopharyngeal muscular dystrophy by autologous transplantation of myoblasts opmd the safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Dec 23, 2012 dysphagia is reported in advanced stages of duchenne muscular dystrophy dmd. While mitochondrial myopathies and encephalomyopathies are relatively rare, some of their potential manifestations are common in the general population. Children with neurologic disabilities frequently have problems with feeding and swallowing. There is no treatment that has been shown to improve swallowing in als to date. Oculopharyngeal muscular dystrophy as a rare cause of. Dysphagia in children and young adults with neuromuscular. In myotonic dystrophy, changes usually occur as a result of weakness in the mouth andor throat muscles. Respiratory and cardiac functions are progressively affected. Affected individuals usually first experience weakness of the muscles in both eyelids that causes droopy eyelids ptosis.
Dysphagia occurs quite frequently in neurological patients and can occur in a broad array of neurological or neuromuscular conditions. Oral motor movements and swallowing in patients with myotonic. Jan 30, 2014 there is no treatment that has been shown to improve swallowing in als to date. Muscular dystrophy october 20, 2009 page 4 of 7 literature regarding exercise and nmes with md the research is varied with regards to the effectiveness of exercise for patients with md. The goal is to maintain weight, maintain efficiency of intake, and minimize the risk of aspiration.
Myotonic dystrophy dm1 is the most prevalent muscular dystrophy occurring in adulthood. The myotonic disorders are a group of rare, genetically heterogeneous syndromes presenting with clinical andor electrical myotonia. However, since all patients with dysphagia, whether cancerspecific or not, have been included in. Canes, braces, walkers, and scooters can help as muscle weakness progresses.
Treatment is aimed at managing symptoms of the disease. One in 17 people will develop some form of dysphagia in their lifetime, including 50 to 75 percent of stroke patients and 60 to 70. Myotonic dystrophy support group helpline 0115 987 0080 what are swallowing difficulties and why do they occur. However, since all patients with dysphagia, whether cancerspecific or not, have been included in the studies with cancer patients, study. The purpose of this report was to evaluate clinical characteristics of the oral motor movements and swallowing of individuals with myotonic dystrophy type 1 dm1 using a standardized clinical protocol and surface electromyography. Stanford medicine myotonic dystrophy patient meeting 2017 sarah stranberg, md, cccslp. Evidencebased information on oral stimulation dysphagia from hundreds of trustworthy sources for health and social care. Muscular dystrophy october 20, 2009 page 2 of 7 myotonic md mmd, also know as steinerts disease, is the most common adult form of the disease.
The myotonic dystrophy foundation mdf is the worlds largest patient organization focused solely on myotonic dystrophy dm. Mdfs mission, care and a cure, is to enhance the quality of life of people living with myotonic dystrophy, and advance research focused on finding treatments and a cure. The electronic databases embase, pubmed, and the cochrane library were used. Neuromuscular electrical stimulation as a treatment dysphagia in stroke.
We aimed to describe the dysphagia in consecutive stages and to assess the underlying mechanisms of dysphagia in dmd, in order to develop mechanism based recommendations for safe swallowing. In this study, the authors found that dysphagia does occur in patients with advanced fshd showing mild. Routine physical activity appears to help maintain muscle strength and endurance and to control musculoskeletal pain. In this crosssectional study, participants were divided into. Mitochondrial myopathies mm muscular dystrophy association. Swallowing difficulties in duchenne muscular dystrophy. The search was limited to english, dutch, french, german, spanish, and portuguese publications. Postextubation dysphagia is a common and serious problem. May 01, 2011 buy dysphagia in neuromuscular diseases clinical dysphagia series by robert miller isbn.
Neuromuscular disease and extubation dysphagia critical. We tried to define the prevalence of dysphagia and to understand underlying mechanisms through an integrated swallowing evaluation on dm1 patients. In muscular dystrophy patients, the pathologic states of dysphagia that develop differ depending on whether the dysphagia is a complication of duchenne muscular dystrophy dmd. However, dysphagia due to amyotrophic lateral sclerosis als is relatively uncommon in ent practice. Neurology had been consulted due to his weakness symptoms and he underwent an emg which showed a myotonic myopathic process consistent with. Bont treatment continues to be the first choice treatment for most types of focal dystonia. Dm2, earlier known as proximal myotonic myopathy promm is caused by a cctg expansion in intron 1 of the znf9 gene on chromosome 3q21. Dysphagia usually increases during young adulthood and may be due to fatigue sleepiness or aspiration drawing breath with eating. Opmd is one of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles. To investigate swallowing problems in patients with duchenne muscular dystrophy dmd using a questionnaire and videofluorography vf. Myotonic dystrophy genetic and rare diseases information. Speech and language pathologist, stanford health care ms.
Efficacy and tolerability of a 20mg dose of methylphenidate for the treatment of daytime sleepiness in adult patients with myotonic dystrophy type 1. Duchenne muscular dystrophy dmd is the most frequent neuromuscular disorder occurring in childhood and is due to mutations of the xp21 gene. 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. Neuromuscular disorders at a glance neuromuscular disorders are conditions that affect some part of the neuromuscular system. In 2007, the american speechlanguagehearing association adopted feeding and swallowing disorders as a more inclusive phrase for disorders in the development of eating and drinking skills and dysphagia, disorders that are common in various pediatric populations. Short report myotonia and flaccid dysarthria in patients. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. He underwent extensive infectious and inflammatory. Dysphagia in patients with duchenne muscular dystrophy. Oculopharyngeal muscular dystrophy genetics home reference. Dm1 is a multisystemic disorder resulting in earlyonset cataracts, cardiac rhythm problems, muscle weakness, ptosis, and cognitive and psychiatric manifestations. Clinical myotonia is characterized by the failure of muscle relaxation after activation. Oropharyngeal dysphagia in myotonic dystrophy type 1.
Duchenne muscular dystrophy dmd leads to progressive muscular weakness and death, most typically from respiratory complications. Paramyotonia congenita nord national organization for. This is in large part due to the biological variations between the various disease types. It may prohibit social participation and cause fear of choking. Affected individuals usually first experience weakness of the muscles in both eyelids that. In myotonic dystrophy progressive muscle weakness occurs and the patients have a lot internal medicine vol. Distal myopathy 2 is a condition characterized by weakness of specific muscles that begins in adulthood. Results published in this journal suggest that 93% of extubated patients with neuromuscular disease had postextubation dysphagia, which in 33%. The term muscular dystrophy means progressive muscle degeneration, with weakness and shrinkage of the muscle tissue. Everyday low prices and free delivery on eligible orders. The population of dmd is changing due to an increasing survival. Oral muscles are progressively affected in duchenne.
Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40. Dysphagia was evident in 35% of patients and was more common in the idiopathic group 47%. 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. The goal is to maintain weight, maintain efficiency of. Dysphagia in children and young adults with neuromuscular disorders nmd is an important clinical issue, resulting in malnutrition, dehydration andor aspiration pneumonias. The term oculopharyngeal refers to the eyes oculo and a part of the throat called the pharynx pharyngeal. Even with the progressive dysphagia, strategies can be useful to allow the als patient to continue to eatdrink for as long as possible.
Jan 08, 2016 it is therefore important that the type of dysphagia be diagnosed and managed correctly. It is therefore important that the type of dysphagia be diagnosed and managed correctly. Oropharyngeal dysphagia and esophageal motility disorders were found to be the most important causes of aspiration pneumonia in patients with myotonic dystrophy. Apr 19, 2017 stanford medicine myotonic dystrophy patient meeting 2017 sarah stranberg, md, cccslp.
Eric ej1010436 dysphagia in duchenne muscular dystrophy. Epidemiology, diagnosis and therapeutic challenges sandra jenkins on. Paramyotonia congenita pmc is a rare nonprogressive genetic disorder that affects the skeletal muscles. Neck swelling and severe dysphagia as the initial symptoms upon presentation has not been previously described. Dysphagia is reported in advanced stages of duchenne muscular dystrophy dmd. Theres no cure, but treatment can help manage symptoms. Dysphagia in duchenne muscular dystrophy versus myotonic dystrophy type 1. Nam occasionally mimicked muscular dystrophy, the authors noted. He currently teaches graduate courses in dysphagia and neural basis for speech, language and hearing his most recent publication with plural publishing titled dysphagia in neuromuscular diseases is the basis for this seminar. Dysphagia is a commonly encountered symptom in ent clinical practice. This study examines the speech therapy conduct in a case of oculuspharyngeal dystrophy. The basics a large proportion of these cases are due to dysphagia arising from a variety of causes, primarily stroke, degenerative neurological diseases, and head and neck cancer.
Dysphagia in duchenne muscular dystrophy assessed by. Oral muscles are progressively affected in duchenne muscular. Dysphagia is not considered a symptom of facioscapulohumeral muscular dystrophy fshd. Affected individuals experience spells of muscle stiffness or when the muscles do not relax after contracting myotonia. Maybe cancer and anatomic and mucosal changes associated with cancer treatment affect the efficacy of treatment negatively. Dysphagia in facioscapulohumeral muscular dystrophy request pdf.
It has been estimated that neurogenic dysphagia develops in approximately 400,000 to 800,000 people per year, and that dysphagia is. Oculopharyngeal muscular dystrophy opmd is a rare cause for lateonset dysphagia. Until recently, speech therapyswallowing, lip and tongue exerciseswas the most popular therapy for dysphagia. Management of adult neurogenic dysphagia serves as a valuable reference for treatment planning, clinical management, and dialogues regarding ethical dilemmas in service delivery to the patient with neurogenic dysphagia. Food and drug administration in 2001, is helping cerebral palsy patients as well as other dysphagia sufferers with swallowing problems. The neuromuscular system includes the muscles, the peripheral motor nerves in arms, legs, neck and face, and the neuromuscular junction where the nerves and muscles meet the. Dysphagia present in duchenne is a result of progressive muscle weakness and accompanies solid rather than liquid intake. It explains how childhood neuromuscular diseases differ from those in adult patients, and it provides clinicians with all the knowledge they need to successfully diagnose and treat their pediatric patients. Concentrating on longterm management and complete rehabilitation efforts when appropriate.
Recent studies on dysphagia in dmd clarify the pathophysiology of swallowing disorders and offer new tools for its assessment but little. Currently, there are very few resources that provide guidance for practicing clinicians in the area of neuromuscular diseases. Speechlanguage clinical pattern in a neurogenic dysphagia. Droopy eyelids, or ptosis, can significantly impair vision and may lead to social awkwardness. A new article, dysphagia in duchenne muscular dystrophy. The disorder typically begins in infancy or early childhood. Until recently, the prevalence and the association with length of intubation had not been clarified.
64 299 1495 56 1057 261 29 203 1301 129 1318 417 1449 626 1354 495 1482 646 242 1127 1319 1004 774 573 750 783 1147 255 1077 330 445 477 1413 617 191 1409 2 485