Becker muscular dystrophy bmd is an inherited condition that causes progressive weakness and wasting of the skeletal and cardiac heart muscles. Rigid spine muscular dystrophy rsmd is a form of congenital muscular dystrophy. Muscular dystrophies are a group of genetic conditions characterized by progressive muscle weakness and wasting atrophy. Duchenne muscular dystrophy cardiac recommendations for the fda as you are aware, muscular dystrophy md is a group of genetically heterogeneous muscle diseases marked by progressive weakness of the skeletal muscles and for some diagnoses, includes a risk of cardiomyopathy 1,2. American college of chest physicians consensus statement on the respiratory and related management of patients with duchenne muscular dystrophy. Describe the genetic origin of becker muscular dystrophy 3. Neuromuscular management maintaining strength and function 11 5. Abstract myotonic dystrophy is the most common form of muscular dystrophy in adults, with a prevalence of 1 in 8,000. Enable javascript to view the expandcollapse boxes. Gastric hypomotility in duchennes muscular dystrophy. Describe the natural history of becker muscular dystrophy 4. Muscular dystrophy md is a group of more than 30 inherited diseases. Becker muscular dystrophy genetic and rare diseases.
Abstract duchenne muscular dystrophy dmd is one of the most common human neuromuscular disorders. Duchenne muscular dystrophy dmd, emphasising that no one aspect of the care of this disease can be taken in isolation. Limbgirdle muscular dystrophy lgmd is a term used to identify a group of inherited neuromuscular diseases that cause progressive weakness and wasting in girdle muscles. It is a slowly progressive, multisystem disorder that affects skeletal. Duchenne muscular dystrophy genetic and rare diseases. Duchenne muscular dystrophy dmd was first described by the french neurologist. Muscular dystrophy uk has created conditionspecific alert cards for different musclewasting conditions. Oculopharyngeal muscular dystrophy genetic and rare. Diagnosis and management of duchenne muscular dystrophy, an update, part. Click on the link to search for specialty clinics nearest you.
Heterogeneous group of diseases, which do not fit into the above two major categories. Disorders in this group cause muscle weakness and wasting atrophy beginning. Xlinked recessive neuromuscular disorder caused by mutations in the dystrophin gene that. Dystrophinopathies, including duchenne and becker muscular. Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically after age 40.
Anesthesia recommendations for patients suffering from. The muscular dystrophies are a group of inherited disorders characterised by progressive muscle wasting and weakness. Duchenne muscular dystrophy dmd is a progressive form of muscular dystrophy that occurs primarily in males, though in rare cases may affect females. Duchenne muscular dystrophy cardiac recommendations for. Muscular dystrophy genetic and rare diseases information. Duchenne muscular dystrophy dmd is the most common form of muscular dystrophy. Review diagnosis and management of duchenne muscular. A walk in their shoes by sherri garcia seabury hall, makawao, hawaii. The dystrophinopathies are characterized by progressive muscle weakness and wasting and occur predominantly in males. Becker muscular dystrophy genetic and rare diseases information. Duchenne and becker muscular dystrophy genetics home. If someone has a cardiomyopathy heartmuscle degeneration, the pumping action of the heart is impaired, and the muscle wont respond to exercise the way a healthy heart would. Historically, diagnosis and evaluation of disease progression depend.
Birnkrant dj, panitch hb, benditt jo, boitano lj, carter er, cwik va et al. As muscles degenerate over time, the per sons muscle strength declines. A bmdcausing mutation typically leads to an abnormal version of the dystrophin protein. Muscular dystrophy md refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control. Facioscapulohumeral muscular dystrophy genetics home. Duchenne muscular dystrophy dmd is a severe, progressive disease that affects 1 in 36006000 live male births. About 50% of patients with progressive muscular dystrophy have a cardiomyopathy, manifested commonly by tachycardia, but also by arrythmias, refractory congestive heart failure and sudden death. The documents are published in lancet neurology and are. The taugdmd describes the most common biomedical concepts relevant to duchenne muscular dystrophy. Diagnosis and management of duchenne muscular dystrophy, part. A guide for families march 2010 1 the diagnosis and management of duchenne muscular dystrophy a. Duchenne muscular dystrophy dmd is a rare genetic inherited disease defined by muscle weakness that gets worse over time and ultimately affects the heart and lungs. In collaboration with the centers for disease control and preventions katie kolor and aileen kenneson.
Muscular dystrophies are a group of disorders that result in muscle weakness and a decrease in muscle mass over time. Studies from the literature report manifold but nonspecific electrocardiographic changes in 41% to 85% of patients with progressive muscular dystrophy. A guide for families march 2010 1 the diagnosis and management of duchenne muscular dystrophy a guide for families contents page disclaimer 1 1. Myotonic dystrophy type 1 dm1 was first described over a century ago. Students in the classroom will be exposed to what it feels like to have muscular dystrophy. Oculopharyngeal muscular dystrophy opmd is a genetic disorder characterized by slowly progressing muscle disease myopathy affecting the muscles of the upper eyelids. More recently a second form of the disease, myotonic dystrophy. Facts about duchenne and becker muscular dystrophies. This condition gets its name from the muscles that are. Duchenne muscular dystrophy care considerations cdc. Use of skeletal muscle mri in diagnosis and monitoring. It is a genetic disorder characterized by progressive weakness and degeneration of the skeletal muscles that control movement. In both duchenne muscular dystrophy dmd and bmd, a mutation in the dmd gene interferes with production of the dystrophin protein, a critical component in the formation and maintenance of healthy muscle.
The muscular dystrophy association has a live chat for patients with limbgirdle muscular dystrophy. Describe the clinical features of becker muscular dystrophy, including age at onset, and physical findings at the time the dystrophy becomes clinically apparent 2. Creatine monohydrate in duchenne muscular dystrophy. A fact sheet for parents and families external external icon.
It is an xlinked recessive disorder with an incidence of 1 in 3,300 live male births emery. Deflazacort vs prednisone treatment for duchenne muscular. In this study we characterized disease progression over 48 weeks among boys receiving deflazacort vs prednisoneprednisolone placebo arm treatment in two recent duchenne muscular dystrophy. Creatine monohydrate in duchenne muscular dystrophy duchenne muscular dystrophy dmd is one of the most common muscle diseases, affecting around 1 in 3500 boys 1. The diagnosis and management of duchenne muscular dystrophy.
Dm1 is caused by expansion of a ctg triplet repeat in the 3 noncoding region of dmpk, the gene encoding the dm protein kinase. The duchenne and becker types of muscular dystrophy are two related conditions that primarily affect skeletal muscles, which are used for movement, and heart cardiac muscle. It is an xlinked reces siv edea c au ed by a fecti dys trophindmd g. Muscle weakness usually becomes apparent between the ages of 5 and 15. Facioscapulohumeral muscular dystrophy is the third most common muscular dystrophy after the duchenne and myotonic types inherited in an autosomal dominant fashion characterized by slowly progressive muscle weakness. Diseases characterized by muscular weakness in early infancy typically obvious at birth and elevated ck in neonatal period normalizes by 610 wks. Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting atrophy. The doctor also wants to determine whether the patients weakness results. 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 muscular dystrophy association can help you find a doctor who knows about muscular dystrophy. Musculardystrophyfor pdf urmc university of rochester. Like many of you, we were shocked and scared by this diagnosis.
Dmd is the most common muscular dystrophy affecting children. Dysferlinopathy genetic and rare diseases information. Limbgirdle muscular dystrophies lgmds are a group of rare progressive genetic disorders that are characterized by wasting atrophy and weakness of the voluntary muscles of the hip and. If you have problems viewing pdf files, download the latest version of adobe reader. To help a child with muscular dystrophy reach his or her full potential. A bmdcausing mutation typically leads to an abnormal version of the dystrophin protein that is only partially functional. The dystrophinopathies are xlinked muscle disorders with variable severity that include duchenne muscular dystrophy dmd, becker muscular dystrophy bmd and xlinked dilated cardiomyopathy. The response of patients with duchennes muscular dystrophy to meeting abstracts with vecuronium you will receive an email whenever this article is corrected, updated, or cited in the. Rigid spine muscular dystrophy genetics home reference. Emerydreifuss muscular dystrophy is a condition that primarily affects muscles used for movement skeletal muscles and the heart cardiac muscle. Duchenne muscular dystrophy, or dmd, is a particular type of muscular dystrophy or wasting caused by a mutation in the dmd gene.
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