Histology shows rimmed vacuoles and tubulofilamentous inclusions in the nuclei. Onset is typically during adulthood, most often between 40 and 60 years of age. Benitec biopharma, an australiabased drug developer, has received the fdas orphan drug designation for bb301, an investigational drug for the treatment of oculopharyngeal muscular. Oculopharyngeal muscular dystrophy opmd is a genetic disorder characterized by slowly progressing muscle disease myopathy affecting the muscles of the upper eyelids and the. The mean age of onset of ptosis is usually 48 years and onset of dysphagia is 50 years. Evidence of pharyngeal muscle weakness often occurs concomitantly with. Cases, such as the report of a jewish family from 1962, disseminated its designation as oculopharyngeal muscular dystrophy opmd 4. 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. Pdf dysphagia with fatal choking in oculopharyngeal muscular. We calculated the prevalence of high burden dysphagia symptoms from. Successful botulinum toxin treatment of dysphagia in. Oculopharyngeal muscular dystrophy an overview sciencedirect.
Dysphagia with fatal choking in oculopharyngeal muscular dystrophy. In this article, we present our experience with three patients with opmd and the challenges in the diagnosis and treatment. In response to the pandemic, parent project muscular dystrophy continues to provide resources and information about covid19 as it relates to duchenne. Treatment of dysphagia in oculopharyngeal muscular dystrophy.
However, the right treatment may help reduce your symptoms. Oculopharyngeal muscular dystrophy opmd is a rare, usually. Symptoms of oculopharyngeal muscular dystrophy including medical symptoms and signs of oculopharyngeal muscular dystrophy, alternative diagnoses, misdiagnosis, and correct diagnosis for. Additionally, opmd can be associated with proximal near the body midline and distal limb muscle weakness. Oculopharyngeal muscular dystrophy as a rare cause of dysphagia. Managing dysphagia parent project muscular dystrophy. Educationnal booklet on dysphagia in steinert myotonic dystrophy. Treatment of dysphagia in oculopharyngeal muscular. Opmd is a rare, slowly progressive myopathy that is characterized by weakness of the eyelids ocular and throat pharyngeal muscles. Ocular myasthenia gravis without waxing and waning of symptoms may produce weakness in the same. Oculopharyngeal muscular dystrophy opmd oculopharyngeal muscular dystrophy opmd refers to a genetic condition that. Pabpn1 is a gene that aids in the bonding of proteins and growth.
Cricopharyngeal dilatation for the longterm treatment of dysphagia. Delayed diagnosis of oculopharyngeal muscular dystrophy in. Oculopharyngeal muscular dystrophy opmd occurs due to a rare mutation of the pabpn1 gene. Opmd is one of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles. Purpose this prospective investigation evaluates oral weakness and its impact on swallow function, weight, and quality of life in patients with oculopharyngeal muscular dystrophy. The prognosis of oculopharyngeal muscular dystrophy may include the duration of oculopharyngeal muscular dystrophy, chances of complications of oculopharyngeal muscular dystrophy, probable. If you have a family history of oculopharyngeal muscular dystrophy, genetic screening may be helpful for an early diagnosis and early treatment.
The subject was treated in the speechlanguage therapy outpatient since march. Oculopharyngeal, distal, and congenital muscular dystrophies. Oculopharyngeal muscular dystrophy explained youtube. A group of genetic musclewasting diseases which affects mainly the eyes and throat. Oculopharyngeal muscular dystrophy opmd is a rare form of muscular dystrophy with symptoms generally starting. Aspiration pneumonia and malnutrition are leading causes of death for individuals with opmd 2, 18. Oculopharyngeal muscular dystrophy opmd cedarssinai. Oculopharyngeal muscular dystrophy opmd is a disorder char acterized by. Swallowing problems can lead to weight loss and chest infections. However, the relative prevalence of dysphagia symptoms were not given for. This is a late onset form of progressive muscular dystrophy with onset of symptoms during midlife mean age of onset 48 years. The patient refused treatment for dysphagia and also percutaneous.
Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40. Oculopharyngeal md muscular dystrophy australia muscular. Opmd is characterized by dysphagia in different levels, accordingly to the severity or progression of the disorder, being necessary to modify the diets firmness. Oculopharyngeal muscular dystrophy most often is an autosomal dominant muscular dystrophy with a distinct phenotype. Oculopharyngeal muscular dystrophy opmd was first described by taylor.
As the dysphagia becomes more severe, patients become malnourished, lose significant weight, become dehydrated and suffer from repeated. Opmd is caused by the abnormal increase in the number of repeats of the alanineencoding gcn trinucleotide in the pabpn1 gene. Dysphagia with fatal choking in oculopharyngeal muscular. The standard method of diagnosing opmd is gene testing. Proposed drug to treat oculopharyngeal muscular dystrophy. With time, both the eoms and other muscles, including the tongue and the masticatory muscles, are also affected. Oculopharyngeal muscular dystrophy is a genetically inherited degenerative disease characterized by muscle weakness that begins in adulthood. The term oculopharyngeal refers to the eyes oculo and a. 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. Because oculopharyngeal muscular dystrophy is a genetic disorder, it cannot be prevented. Typical symptoms besides dysphagia include ptosis and sometimes proximal muscle weakness. Oculopharyngeal muscular dystrophy opmd is an inherited disease of the muscles myopathy that progresses slowly, mainly affecting muscles of the upper eyelids and the throat. Swallow characteristics in patients with oculopharyngeal.
Oculopharyngeal muscular dystrophy opmd is a rare form of muscular dystrophy with symptoms generally starting when an individual is 40 to 50 years old. Unfortunately, theres no cure for oculopharyngeal muscular dystrophy. The transmission is autosomal dominant and the course is slowly progressive. Opmd is among the few triplet repeat diseases polyalanine polya expansion diseases. For difficulty swallowing, a professional specialist might be able to help. Introduction oculopharyngeal muscular dystrophy opmd presents with progressive ptosis, dysphagia and limb girdle weakness, and is caused by expansion of a trinucleotide tandem repeat within the gene encoding polya binding protein 2. This problem can be resolved with a type of surgery called a frontalis sling performed by an oculoplastic surgeon. Cricopharyngeal myotomy is the treatment of choice for dysphagia in opmd.
Mean of oculopharyngeal muscular dystrophy is 1164 points 32 %. Dysphagiarelated quality of life in oculopharyngeal muscular. Oculopharyngeal muscular dystrophy genetic and rare. Affected individuals usually first experience weakness of the muscles in both eyelids that. It progresses slowly, causing weakness in the eye and face. Oculopharyngeal muscular dystrophy opmd is an adultonset. It can also be associated with proximal and distal extremity. Opmd is one of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily.
Oculopharyngeal muscular dystrophy opmd is an autosomal dominant disorder of late onset that commonly presents with ptosis and dysphagia. In conditions such as oculopharyngeal muscular dystrophy opmd. Symptoms include droopy eyelids, difficulty swallowing. Jun 14, 2016 oculopharyngeal muscular dystrophy opmd is a genetic disorder characterized by slowly progressing muscle disease myopathy affecting the muscles of the upper eyelids and the throat. The term oculopharyngeal refers to the eyes oculo and a part of the throat called the pharynx pharyngeal. Can oculopharyngeal muscular dystrophy be prevented. Dec 12, 2017 a new gene therapy treatment may be on the horizon for oculopharyngeal muscular dystrophy patients. This chapter discusses the etiology, genetics, pathogenesis, clinical manifestations, management, and prognosis of this relatively rare neuromuscular disorder. Droopy eyelids, or ptosis, can significantly impair vision and may lead to. Oculopharyngeal muscular dystrophy genetics home reference. Brief summary myotonic dystrophy can affect the muscles of your face, mouth and throat. A familial disease of late life characterized by dysphagia and progressive ptosis of the eyelids. The condition may harm vision and cause problems swallowing and talking. Oculopharyngeal muscular dystrophy opmd is a genetic disorder characterized by a slowly progressing muscle disease myopathy affecting the muscles of the upper eyelids and the throat.
Oculopharyngeal muscular dystrophy is a genetic disease distinguished by the onset of ptosis, dysphagia, and weakness of voluntary skeletal muscles in elderly individuals. Pdf oculopharyngeal muscular dystrophy an underdiagnosed. It is useful to explain the words that make up opmd. Oculopharyngeal muscular dystrophy is a disorder of late adult onset characterized by progressive ptosis and dysphagia. Choking, food regurgitation, and possibly lifethreatening aspiration pneumonia are rare but important complications.
Speechlanguage clinical pattern in a neurogenic dysphagia case. Oculopharyngeal muscular dystrophy opmd mim 164300, 1 an autosomal dominant disorder clinically characterized by ptosis and dysphagia, 2 usually manifests insidiously after the. Oculopharyngeal muscular dystrophy or oculopharyngeal distal. Find out more below, or keep up with the original story at. Underdiagnosis of opmd is common in asian countries and results in delayed diagnoses and fatal events. Oculopharyngeal muscular dystrophy opmd background. Early symptoms of dysphagia are increased time needed to consume a meal and an acquired avoidance of dry foods.
Opmd is a rare, slowly progressive myopathy that is characterized by weakness of the eyelids ocular. Weakness or stiffness myotonia in these muscles can cause problems with swallowing. Statistics of oculopharyngeal muscular dystrophy 8 people with oculopharyngeal muscular dystrophy have taken the sf36 survey. Oculopharyngeal muscular dystrophy opmd is a rare genetic condition. Along with ptosis, affected individuals develop weakness of the throat muscles that causes difficulty swallowing dysphagia. Treatment of dysphagia in oculopharyngeal muscular dystrophy by autologous transplantation of myoblasts opmd the safety and scientific validity of this study is the.
This is in large part due to the biological variations between the various disease types. Oculopharyngeal muscular dystrophy opmd is a rare autosomal dominant, progressive degenerative muscle disorder featuring dysphagia with. For more on the medical management and pathophysiology of opmd, see in focus. The genetic basis of the condition has been identified. Exciting development in potential oculopharyngeal muscular. Dec 19, 20 safety tolerability and efficacy study of cabaletta to treat oculopharyngeal muscular dystrophy opmd patients hopemd the safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Oculopharyngeal muscular dystrophy hereditary ocular.
Boston, massachusetts in 1879, hutchinson described external ophthalmoplegia in which blepharoptosis was associated with paralysis of other extraocular muscles. Droopy eyelids, or ptosis, can significantly impair vision and may lead to social awkwardness. Symptoms usually appear at the age between 40 and 60 years. Affected individuals usually first experience weakness of the muscles in both eyelids that causes droopy eyelids ptosis. Oculopharyngeal muscular dystrophy opmd is a genetic disease that is characterized by muscle wasting. Oculopharyngeal muscular dystrophy opmd is a rare cause for lateonset dysphagia.
Oculopharyngeal muscular dystrophy opmd is an autosomal dominant lateonset progressive muscle disorder typically characterized by ptosis, difficulty in swallowing, and proximal limb weakness. Oculopharyngeal muscular dystrophy opmd is a rare type of muscular dystrophy which primarily affects two small muscle groups the muscles around the eyes oculo and the muscles used for swallowing pharyngeal. Safety tolerability and efficacy study of cabaletta to treat. Opmd mim 164300 is an autosomal dominant, adultonset disease that usually starts in the fifth or sixth decade of life. Currently, there is no definitive treatment for opmd, but rehabilitation exercises and surgical intervention are helpful in relieving dysphagia. Oculopharyngeal muscular dystrophy opmd is a rare myopathy that is. Swallowing diff iculties in myotonic dystrophy by jodi allen.
Oculopharyngeal muscular dystrophy in hispanic new. As its name implies, muscles that control the eyelids oculo and throat pharyngeal are typically the first affected in opmd patients. Oculopharyngeal muscular dystrophy symptoms, treatments. Oculopharyngeal muscular dystrophy in two unrelated. Zohar argov, md, senior medical advisor to bioblast pharma describes oculopharyngeal muscular dystrophy a rare genetic muscle disorder characterized by progressive weakness in. For further information on the trial and detailed inclusion and exclusion please click on the link below. Weakness in limb and facial muscles can occur in later stages. This can lead to chest infections if food and drink is accidentally swallowed the wrong way into the lungs.
Aug 04, 2016 zohar argov, md, senior medical advisor to bioblast pharma describes oculopharyngeal muscular dystrophy a rare genetic muscle disorder characterized by progressive weakness in muscles of the. Bernard brais, in handbook of clinical neurology, 2011. Oculopharyngeal muscular dystrophy opmd is an autosomal dominant lateonset progressive muscle disorder typically characterized by ptosis, difficulty in swallowing, and proximal. What are the treatment options for oculopharyngeal muscular. Oculopharyngeal muscular dystrophy opmd is characterized by ptosis and swallowing difficulties due to selective involvement of the muscles of the eyelid and pharynx, respectively. Dysphagia can eventually make it difficult to swallow solid foods, liquids and even small amounts of saliva. Oculopharyngeal muscular dystrophy opmd is a rare myopathy characterized by ocular and pharyngeal muscle involvement.
Dec 28, 2017 oculopharyngeal muscular dystrophy opmd presents with ptosis and dysphagia in the fifth or sixth decade of life. Oculopharyngeal muscular dystrophy opmd is an autosomal dominant lateonset. Speechlanguage clinical pattern in a neurogenic dysphagia. Opmd include ptosis and progressive dysphagia leading. Due to a lack of clinical suspicion and the rarity of the disease, the diagnosis is often missed. It is characterized by eyelid ptosis and dysphagia. Oculopharyngeal muscular dystrophy opmd refers to a genetic condition that causes muscle weakness in a characteristic pattern. For difficulty swallowing, a professional specialist might be able to help you learn techniques for treating the problem, including adjusting the way you hold your head and adding thickeners to adjust the consistency of liquids. Oculopharyngeal muscular dystrophy opmd is an autosomal dominant muscle disorder, usually of late onset. Oculopharyngeal muscular dystrophy opmd what is oculopharyngeal muscular dystrophy opmd. The patient was treated with speech therapy for deglutition, and botulinum toxin was applied in his salivary glands to reduce saliva production.
This form of muscular dystrophy appears in men and women in their 40s, 50s, and 60s. 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. Oculopharyngeal muscular dystrophy is a late onset dystrophy, typically starting in the fifth or sixth decade of life, and is manifested clinically by the presence of ptosis and subsequently including swallowing difficulties. Opmd is characterized by slowly progressive muscle disease myopathy affecting the muscles of the upper eyelids and the throat. But our work goes beyond this virus we have a mission to fulfill and a momentum that we must maintain. Oculopharyngeal muscular dystrophy opmd is a genetic disorder characterized by slowly progressing muscle disease myopathy affecting the muscles of the upper eyelids and the throat. Clinical features opmd typically presents with ptosis, dysarthria, and dysphagia. Oculopharyngeal muscular dystrophy opmd is rare, adultonset. Total score ranges from 0 to 3,600 being 0 the worst and 3,600 the best.
Oculopharyngeal muscular dystrophy opmd is a rare myopathy that is characterized by ocular and pharyngeal muscle involvement, leading to ptosis and. Oculopharyngeal muscular dystrophy opmd is a rare lateonset hereditary myopathy characterized by progressive ptosis and dysphagia. Educationnal booklet on dysphagia in steinert myotonic. Treatment depends on the signs and symptoms present in each person. Oculopharyngeal muscular dystrophy opmd is rare, adultonset, familial muscular dystrophy, which has been mainly characterized clinically by progressive dysphagia and ptosis. Oculopharyngeal muscular dystrophy as a rare cause of. It progresses slowly, causing weakness in the eye and face muscles, which. This book addresses this problem by using the casehistory and. It can be autosomal dominant neuromuscular disease or autosomal recessive. Treatment of dysphagia in oculopharyngeal muscular dystrophy by autologous transplantation of myoblasts. Oculopharyngeal muscular dystrophy opmd is a rare myopathy that is characterized by ocular and pharyngeal muscle involvement, leading to ptosis and dysphagia.
Oculopharyngeal muscular dystrophy opmd is an autosomal dominant form of. What are the treatment options for oculopharyngeal. It causes weakness in the muscles around the upper eyelids and part of the throat called the pharynx. Oculopharyngeal muscular dystrophy opmd is a lateonset genetically inherited disease of skeletal muscles associated with progressive blepharoptosis ptosis and dysphagia. Progressive eyelid ptosis, followed by dysphagia and proximal limb weakness are the clinical findings. Treatment of swallowing difficulties in oculopharyngeal. Oculopharyngeal muscular dystrophy opmd is a lateonset muscle disease associated with progressive ptosis of the eyelids, dysphagia, and unique. Oculopharyngeal muscular dystrophy opmd is a rare genetic muscle disorder with onset during adulthood most often between 40 and 60 years of age. Oculopharyngeal muscular dystrophy opmd is an autosomal dominant form of lateonset slowly progressive myopathy characterized by eyelid ptosis, dysphagia and, sometimes by other cranial and limbmuscle involvement. Oculopharyngeal muscular dystrophy opmd is a disorder characterized by progressive palpebral ptosis and dysphagia. Affected individuals may develop drooping of the eyelids ptosis.
Oculopharyngeal muscular dystrophy opmd is an autosomal dominant form of lateonset slowly progressive myopathy characterized by eyelid ptosis, dysphagia and, sometimes by other cranial and. Oculopharyngeal muscular dystrophy opmd is an uncommon. Apr 05, 2014 oculopharyngeal muscular dystrophy opmd is a rare cause for lateonset dysphagia. Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy.
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