Oculopharyngeal muscular dystrophy opmd is a rare form of muscular dystrophy with symptoms generally starting when an individual is 40 to 50 years old. Neurodevelopmental, behavioral, and emotional symptoms common. Duchenne muscular dystrophy genes and disease ncbi bookshelf. Muscular dystrophies sathasivam s the walton centre nhs foundation trust, lower lane, liverpool l9 7lj, united kingdom abstract huge strides have been made in the last two decades in our understanding of muscular dystrophies. Boston, massachusetts in 1879, hutchinson described external ophthalmoplegia in which blepharoptosis was associated with paralysis of other extraocular muscles. Dec 16, 2008 the oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11. Cmd with secondary merosin deficiency type 1 mdc1b is characterized by diminished muscle tone hypotonia, muscle weakness of the muscles closer to the center of the body proximal muscles, generalized overgrowth of some muscles hypertrophy, rigidity of the spine, and contractures especially. Because theyre less common, they can be difficult to diagnose, and many questions remain to be answered about their symptoms and progression. Duchenne muscular dystrophy genes and disease ncbi. This form of muscular dystrophy appears in men and women in their 40s, 50s, and 60s. As its name implies, muscles that control the eyelids oculo and throat pharyngeal are typically the first affected in opmd patients. Abstract introduction we studied neurodevelopmental and behavioralemotional symptoms in patients with duchenne 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.
Full text full text is available as a scanned copy of the original print version. Duchenne muscular dystrophy genetic and rare diseases nih. Find your symptoms soulmates from now on you can add your symptoms in diseasemaps and find your symptoms soulmates. Oculopharyngeal muscular dystrophy opmd is a rare genetic muscle disorder with onset during adulthood most often between 40 and 60 years of age. Muscular dystrophy information page national institute of. 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. Dmd is one of the most prevalent types of muscular dystrophy and is characterized by rapid progression of muscle degeneration that occurs early in life. Clinical features opmd typically presents with ptosis, dysarthria, and dysphagia. Disruption of gene expression or chromosomal organization. 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. Recent distrofoa on oculopharyngeal muscular dystrophy in quebec.
The different types can vary in whom they affect, which muscles they affect, and what the. Myotonic dystrophy modified from o brien and kunkel, children s hospital, boston. Oculopharyngeal muscular dystrophy opmd is an autosomal dominant disorder of late onset that commonly presents with ptosis and dysphagia. Dystrophin is usually absent in patients with duchenne muscular dystrophy, but is reduced in amount or abnormal in size in people with becker muscular dystrophy. Oculopharyngeal muscular dystrophy opmd is classically an autosomal dominant condition most often found in people with frenchcanadian ancestry where it is estimated to affect 1 in 1,000 individuals, although there are some rarer recessively inherited mutations as well. Duchenne muscular dystrophy dmd is a genetic condition that affects the muscles, leading to muscle wasting that gets worse over time. Choking, food regurgitation, and possibly lifethreatening aspiration pneumonia are rare but important complications.
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. Dystrophin provides the connection between a large multimeric complex of glycoproteins in the muscle cell membrane. It can also be associated with proximal and distal extremity. Onset is typically during adulthood, most often between 40 and 60 years of age. Congenital, distal, emerydreifuss and oculopharyngeal. 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. An 80yearold male presented with progressive dysphagia, frequent aspiration and change of voice getting inarticulate and hoarse.
Some forms of md are seen in infancy or childhood, while others may not appear until. Can oculopharyngeal muscular dystrophy be prevented. Symptoms people with opmd do not usually develop symptoms until after the age of 40, with an average age of onset of around 50. Links to pubmed are also available for selected references. Opmd normally follows an autosomal dominant inheritance. As these muscles weaken, patients have difficulty keeping their eyes open and find that. It can be autosomal dominant neuromuscular disease or autosomal recessive. Opmd a rare form of muscular dystrophy in which muscles that control the eyelids and swallowing are primarily affected. The condition has been reported in over 30 countries. Patients usually appear healthy before the onset of disease symptoms, typically between ages 40 to 60. The most common inheritance of opmd is autosomal dominant, which means only one copy of the mutated gene needs to be.
We report the medical odyssey of a 57year old male caucasian patient. Cardiac involvement in patients with muscular dystrophies. Opmd is a rare, slowly progressive myopathy that is characterized by weakness of the eyelids ocular and throat pharyngeal muscles. Some things it is useful to know about duchenne muscular. Herein we describe a rare case of an autosomal recessive inheritance of opmd. Food and drug administration fda granted accelerated approval to golodirsen injection to treat duchenne muscular dystrophy dmd patients who have a confirmed mutation of the dystrophin gene that is amenable to exon 53 skipping. It progresses slowly, causing weakness in the eye and face muscles, which. Pabpn1 gene therapy for oculopharyngeal muscular dystrophy. Total score ranges from 0 to 3,600 being 0 the worst and 3,600 the best. 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. Treatment of dysphagia in oculopharyngeal muscular. Oculopharyngeal muscular dystrophy opmd what is oculopharyngeal muscular dystrophy opmd.
Affected individuals may develop drooping of the eyelids ptosis. It was first termed opmd by victor and colleagues in 1962 victor et al. Respiratory involvement contributes significantly to morbidity and mortality in patients with neuromuscular disorders. Oculopharyngeal muscular dystrophy opmd is a rare form of muscular dystrophy that causes progressive muscle weakness predominantly in the eye oculo and throat pharyngeal muscles patients usually appear healthy before the onset of disease symptoms, typically between ages 40 to 60. Muscular dystrophy, oculopharyngeal definition of muscular. Duchenne and becker muscular dystrophy dmd and bmd, respectively are xlinked disorders affecting the synthesis of dystrophin, a large sarcolemmal protein that is absent in dmd 11 and reduced in amount or abnormal in size in bmd patients 12. Cmd is the second most common cause of muscular dystrophy in japan, but is rare in other countries. Like many of you, we were shocked and scared by this diagnosis. The proband presented for evaluation of secretory otitis media with effusion, as a result of tubal dysfunction. Jun 15, 2016 oculopharyngeal muscular dystrophy opmd affects males and females in equal numbers. Duchenne muscular dystrophy dmd is one of a group of muscular dystrophies characterized by the enlargement of muscles. More detailed information about the inheritance of opmd can be viewed on our web site by clicking here.
It is a late adult onset autosomal dominant form of muscular dystrophy that constitutes as a rare diagnosis for any place outside of canada and first case in southern germany. In 1986, mdasupported scientists identified the gene that, when defective, causes duchenne muscular dystrophy. If one of these genes is defective, muscular dystrophy occurs. Definitiondiagnosis criteria oculopharyngeal muscular dystrophy opmd is an autosomal dominant form of lateonset slowly progressive myopathy. Muscular dystrophy md refers to a group of more than 30 genetic diseases that cause muscle degeneration, progressive weakness and chronic or permanent shortening of tendons and muscles. Since then, researchers have forged ahead to isolate and characterize genes involved in almost all the neuromuscular disorders in mdas program, including those responsible for oculopharyngeal muscular dystrophy opmd. Congenital muscular dystrophy nord national organization.
Oculopharyngeal muscular dystrophy opmd is inherited in either an autosomal dominant or an autosomal recessive manner. Diagnosis and management of duchenne muscular dystrophy, part 3. Affected individuals usually first experience weakness of the muscles in both eyelids that causes droopy eyelids ptosis. Treatment of dysphagia in oculopharyngeal muscular dystrophy. One affected member also had total external ophthalmoplegia and weakness of the limbgirdle muscles. Oculopharyngeal muscular dystrophy opmd is a rare myopathy that is characterized by ocular and pharyngeal muscle involvement, leading to ptosis and dysphagia.
The most common inheritance of opmd is autosomal dominant, which means only one copy of the mutated gene needs to be present in each cell. Oculopharyngeal muscular dystrophy opmd is a genetic disease that is characterized by muscle wasting. Oculopharyngeal muscular dystrophy opmd is an autosomal dominant muscle disorder, usually of late onset. 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. The muscular dystrophy campaign mdc has booklets written for boys with dmd.
Mean of oculopharyngeal muscular dystrophy is 1164 points 32 %. Treatment focuses on symptom management and can include steroids, physical therapy, breathing support devices and surgery. Symptoms soulmates are people with similar symptoms to you. Opmd is a genetic condition that is most commonly inherited in an autosomal dominant manner a. Additionally, opmd can be associated with proximal near the body midline and distal limb muscle weakness. Guideline on the clinical investigation of medicinal products for the. A rare form of muscular dystrophy in which muscles that control the eyelids and swallowing are primarily affected. The muscular dystrophies md are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Opmd is characterized by slowly progressive muscle disease myopathy affecting the muscles of the upper eyelids and the throat. Pdf oculopharyngeal muscular dystrophy associated with dementia. Oculopharyngeal muscular dystrophy opmd barbeaus disease.
The term oculopharyngeal refers to the eyes oculo and a part of the throat called the pharynx pharyngeal. The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11. The duchenne muscular dystrophy gene product is localized in the sarcolemma of human skeletal muscle. Oculopharyngeal muscular dystrophy as a rare differential. Oculopharyngeal muscular dystrophy genetic and rare. Muscular dystrophy uk has created conditionspecific alert cards for different musclewasting conditions. Variability and trends in corticosteroid use by male united states participants with duchenne muscular dystrophy in the duchenne registry. Get a printable copy pdf file of the complete article 672k, or click on a page image below to browse page by page. A family affected with oculopharygeal muscular dystrophy opmd is reported. Ptosis and dysphagia beginning in the patients late 40s or early 50s are characteristic symptoms. 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. Affected individuals usually first experience weakness of the muscles in both eyelids that. Symptoms generally appear when the person is 40 to 60 years old. Oculopharyngeal muscular dystrophy opmd is a rare cause for lateonset dysphagia.
This has led to better classification of this group of heterogeneous neuromuscular disorders based on clinical features. There is huge variation in severity between the different conditions. Certain genes are involved that protect the fibers of the muscles from damage. All are xlinked and affect mainly malesan estimated 1 in 3500 boys worldwide.
Explaining muscular dystrophy to your friends and family will play a vital role in your acceptance of your current situation. Pdf oculopharyngeal muscular dystrophy an underdiagnosed. The ninds is a member of the muscular dystrophy coordinating committee mdcc. Muscular dystrophies sathasivam s the walton centre nhs foundation trust, lower lane, liverpool l9 7lj, united kingdom.
Muscular dystrophy md is a group of more than 30 inherited diseases. Explaining muscular dystrophy to your family and friends. Nine members of 3 generations were known to be affected. Oculopharyngeal muscular dystrophy as a rare cause of. These discoveries have enabled scientists to understand. Oculopharyngeal muscular dystrophy opmd is a lateonset autosomal dominant muscular dystrophy which presents typically after the age of 50 with progressive eyelid drooping and an increasing. Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40. Oculopharyngeal muscular dystrophy opmd is a rare form of muscular dystrophy that causes progressive muscle weakness predominantly in the eye oculo and throat pharyngeal muscles. Priorities when deciding on participation in earlyphase gene therapy trials for duchenne muscular dystrophy. Familial late onset oculopharyngeal muscular dystrophy. Muscular dystrophy is a broad label used to describe a group of genetic disorders that cause muscle degeneration and weak ness. Duchenne muscular dystrophy this document is a translation of the french recommendations drafted by dr.
Due to a lack of clinical suspicion and the rarity of the disease, the diagnosis is often missed. Decline in lung volume with duchenne muscular dystrophy is. Duchenne muscular dystrophy dmd is the most common neuromuscular disorder, with an incidence of 3. Muscular dystrophy information page national institute. The different types can vary in whom they affect, which muscles they affect, and what the symptoms are. Oculopharyngeal muscular dystrophy opmd is an autosomal dominant disorder characterized by slowly progressive bilateral ptosis, dysphagia, extraocular muscle weakness, and proximal limb weakness. Pdf oculopharyngeal muscular dystrophy associated with. Statistics of oculopharyngeal muscular dystrophy 8 people with oculopharyngeal muscular dystrophy have taken the sf36 survey. Opmd is among the few triplet repeat diseases polyalanine polya expansion diseases. Oculopharyngeal muscular dystrophy brain oxford academic. Duchenne muscular dystrophy is characterised by progressive symmetrical muscular weakness that affects proximal muscles more than distal. Paquin, ryan fischer, carol mansfield, brennan mange, katherine beaverson, annie ganot, amy strong martin, carl morris, colin rensch, valeria ricotti, leo j. Oculopharyngeal muscular dystrophy opmd is an autosomal dominant, lateonset muscle disorder characterized by ptosis, swallowing difficulties, proximal limb weakness and.
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