Oculopharyngeal muscular dystrophy affects not only the eye muscles but also those of the throat. Opmd is among the few triplet repeat diseases polyalanine polya expansion diseases. Mean of oculopharyngeal muscular dystrophy is 1164 points 32 %. Disruption of gene expression or chromosomal organization. Oculopharyngeal muscular dystrophy opmd is an autosomal dominant disorder of late onset that commonly presents with ptosis and dysphagia. Myotonic dystrophy modified from o brien and kunkel, children s hospital, boston, ma and. Muscular dystrophy symptoms and causes mayo clinic.
Dec 28, 2017 oculopharyngeal muscular dystrophy opmd presents with ptosis and dysphagia in the fifth or sixth decade of life. Pdf oculopharyngeal muscular dystrophy in hispanic new. In muscular dystrophy, abnormal genes mutations interfere with the production of proteins needed to form healthy muscle. Oculopharyngeal muscular dystrophy opmd is an autosomal dominant disorder characterized by slowly progressive bilateral ptosis, dysphagia, extraocular muscle weakness, and proximal limb weakness. The resultant mutant pabpn1 forms aggregates within the nuclei of skeletal muscle fibres. 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. Gene therapy for oculopharyngeal muscular dystrophy slideshow. 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. It progresses slowly, causing weakness in the eye and face muscles, which. Current targeted therapeutic strategies for oculopharyngeal. Pdf oculopharyngeal muscular dystrophy an underdiagnosed.
Oculopharyngeal muscular dystrophy explained youtube. Oculopharyngeal muscular dystrophy opmd is a rare myopathy that is characterized by ocular and pharyngeal muscle involvement. Oculopharyngeal muscular dystrophy opmd is caused by a small. Distal myopathy particularly affects the muscles of the feet and hands.
Treatment depends on the signs and symptoms present in each person. Miogenic ptosis in oculopharyngeal muscular dystrophy scielo. Oculopharyngeal muscular dystrophy pathology britannica. It was first termed opmd by victor and colleagues in 1962 victor et al. The transmission is autosomal dominant and the course is slowly progressive. Muscular dystrophy, oculopharyngeal definition of muscular. Pabpn1 gene therapy for oculopharyngeal muscular dystrophy. Oculopharyngeal muscular dystrophy is a genetic disease distinguished by the onset of ptosis, dysphagia, and weakness of voluntary skeletal muscles in elderly individuals. Opmd normally follows an autosomal dominant inheritance. Treatment of dysphagia in oculopharyngeal muscular dystrophy. Oct 16, 2008 the oculopharyngeal muscular dystrophy opmd is a late onset hereditary muscle disease which is characterised by the selective affection of the pharyngeal muscles resulting in swallowing disorders, and by a ptosis from the dysfunction of the levator palpebral superiors muscles.
Definitiondiagnosis criteria oculopharyngeal muscular dystrophy opmd is an autosomal dominant form of lateonset slowly progressive myopathy. Pdf oculopharyngeal muscular dystrophy as a rare cause of. A simple test for the detection of dysphagia in members of families with oculopharyngeal muscular dystrophy. Pabpn1 levels are established by a feedforward loop combining at least. Oculopharyngeal muscular dystrophy as a paradigm for muscle aging. Oculopharyngeal muscular dystrophy opmd is an autosomal dominant disease caused by an alanine tract expansion mutation in polya binding protein nuclear 1 exppabpn1. Oculopharyngeal muscular dystrophy in focus dear readers opmd is a form of muscular dystrophy in which symptoms usually first appear between the 30s and 60s, and primarily involve the muscles of the upper eyelids and the swallowing muscles.
Oculopharyngeal muscular dystrophy opmd is a rare myopathy that is characterized by ocular and pharyngeal muscle involvement, leading to ptosis and dysphagia. The term oculopharyngeal refers to the eyes oculo and a part of the throat called the pharynx pharyngeal. Clinical features opmd typically presents with ptosis, dysarthria, and dysphagia. Opmd is one of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles. Oculopharyngeal muscular dystrophy opmd is a genetic disease that is characterized by muscle wasting. Members of a large frenchcanadian family were found to have the cardinal features of the oculopharyngeal syndrome, including ptosis and dysphagia, which usually began late in life and progressed slowly. Recent studies on oculopharyngeal muscular dystrophy in qu6bec. Oculopharyngeal muscular dystrophy as a rare cause of dysphagia. Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy. Safety tolerability and efficacy study of cabaletta to treat. Oculopharyngeal muscular dystrophy brain oxford academic. Oculopharyngeal muscular dystrophy opmd is a rare form of muscular dystrophy with symptoms generally starting when an individual is 40 to 50 years old. Rnabased therapy utilizing oculopharyngeal muscular dystrophy.
Symptoms of the most common variety begin in childhood, mostly in boys. Progressive eyelid ptosis, followed by dysphagia and proximal limb weakness are the clinical findings. Jan 31, 2020 muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. Oculopharyngeal muscular dystrophy opmd the term muscular dystrophy is used to cover a wide range of conditions which have in common progressive muscle weakness and wasting owing to an inherited genetic defect mutation. Like most forms of muscular dystrophy md, its a slowprogression disease that affects the muscles of the upper eyelid and throat, leading to ptosis, or drooping eyelids, as well as dysphagia and difficulties swallowing. Myotonic dystrophy modified from o brien and kunkel, children s hospital, boston. To model opmd in a myogenic and physiological context, we generated mouse myoblast cell clones stably expressing either human wild type wt or exppabpn1 at low levels. Nih funding opportunities and notices in the nih guide for grants and contracts. Oculopharyngeal muscular dystrophy opmd is a rare myopathy caused by polyalanine triplet repeat expansion in the gene for polya binding protein 2 pabp2 and is found in isolated cohorts.
Statistics of oculopharyngeal muscular dystrophy 8 people with oculopharyngeal muscular dystrophy have taken the sf36 survey. Due to a lack of clinical suspicion and the rarity of the disease, the diagnosis is often missed. It can be autosomal dominant neuromuscular disease or autosomal recessive. Oculopharyngeal muscular dystrophy opmd background. The authors report a case of oculopharyngeal muscular dystrophy. Here we show that the treatment of a mouse model of opmd with an adeno associated virusbased gene therapy combining complete.
Oculopharyngeal muscular dystrophy oculopharyngeal. Oculopharyngeal muscular dystrophy opmd is a genetic disorder that typically appears after the age of 40. Oculopharyngeal muscular dystrophy genetic and rare. A rare form of muscular dystrophy in which muscles that control the eyelids and swallowing are primarily affected. Additionally, opmd can be associated with proximal near the body midline and distal limb muscle weakness. As the condition progresses, it becomes harder to move. The genetic basis of the condition has been identified recently as a stable trinucleotide repeat expansion in exon 1 of the polya binding protein 2 gene pabp2, in which gcg 6 is the normal repeat. Compositional analysis of muscle in boys with duchenne muscular dystrophy using mr imaging. Modeling oculopharyngeal muscular dystrophy in myotube. 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. Abstract introduction there is currently little evidence regarding oculopharyngeal muscular dystrophy opmd disease burden reported by patients. Epidemiology and inheritance of oculophyaryngeal muscular dystrophy in israel. Oculopharyngeal muscular dystrophy opmd is an autosomal. There is huge variation in severity between the different conditions.
It is useful to explain the words that make up opmd. Oculopharyngeal muscular dystrophy opmd what is oculopharyngeal muscular dystrophy opmd. As these muscles weaken, patients have difficulty keeping their eyes open and find that. Opmd mim 164300 is an autosomal dominant, adultonset disease that usually starts in the fifth or sixth decade of life. Pdf oculopharyngeal muscular dystrophy opmd is an autosomal dominant form of lateonset muscular dystrophy. Oculopharyngeal muscular dystrophy opmd barbeaus disease. Oculopharyngeal muscular dystrophy opmd is an autosomal dominant lateonset progressive muscle disorder typically characterized by. Oculopharyngeal muscular dystrophy opmd is a lateonset, autosomal dominant disease caused by the abnormal expansion of a polyalanine tract within the coding region of polya binding protein nuclear 1 pabpn1. Oculopharyngeal muscular dystrophy opmd is a midlife onset hereditary.
Histology shows rimmed vacuoles and tubulofilamentous inclusions in the nuclei. Recent studies on oculopharyngeal muscular dystrophy in. Oculopharyngeal md muscular dystrophy australia muscular. The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14ql 1. Choking, food regurgitation, and possibly lifethreatening aspiration pneumonia are rare but important complications. Oculopharyngeal muscular dystrophy opmd is a rare cause for lateonset dysphagia. 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 mirnas combine with proteins, shared with the rnai pathway.
Apr 05, 2014 oculopharyngeal muscular dystrophy opmd is a rare cause for lateonset dysphagia. Pdf living with oculopharyngeal muscular dystrophy. Onset is typically during adulthood, most often between 40 and 60 years of age. Mar 31, 2017 oculopharyngeal muscular dystrophy opmd is an autosomal dominant, lateonset muscle disorder characterized by ptosis, swallowing difficulties, proximal limb weakness and nuclear aggregates in. Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40. Oculopharyngeal muscular dystrophy opmd oculopharyngeal muscular dystrophy opmd refers to a genetic condition that causes muscle weakness in a characteristic pattern. Oculopharyngeal muscular dystrophy genetics home reference. Ptosis and dysphagia beginning in the patients late 40s or early 50s are characteristic symptoms. 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. Opmd typically presents with ptosis, dysarthria, and dysphagia. The condition is one of the milder forms of muscular dystrophy. Oculopharyngeal muscular dystrophy opmd is an autosomal dominant muscle disorder, usually of late onset. Total score ranges from 0 to 3,600 being 0 the worst and 3,600 the best.
Opmd is a rare, slowly progressive myopathy that is characterized by weakness of the eyelids ocular and throat pharyngeal muscles. It is an inherited condition with an increased occurrence among people of french canadian descent. Oculopharyngeal muscular dystrophy or oculopharyngeal distal. As its name implies, muscles that control the eyelids oculo and throat pharyngeal are typically the first affected in opmd patients. Because one of the cases had a weakness of the limb girdle muscles, they went on to suggest that opmd merge with the muscle dystrophies of the more classic. 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.
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