There are many different kinds of muscular dystrophy, each affecting different groups of muscles. There are more than 30 types of muscular dystrophy, all with different causes and symptoms. Types of neuromuscular disorders muscular dystrophy canada. Duchenne muscular dystrophy and becker muscular dystrophy, the two most common types, are caused by a lack of a skeletal muscle membrane protein called dystrophin. Difference between duchenne and becker muscle dystrophy. Limb girdle muscular dystrophy lgmd is the common name for a diverse group of muscular dystrophies affecting mainly the pelvic hip and shoulder regions. Muscular dystrophy diagnosis and treatment mayo clinic. The absence of other vital muscle proteins not shown leads to muscular dystrophies not covered in this booklet, such as duchenne md. There are different types of muscular dystrophy, including the following. Symptoms for this type of muscular dystrophy will typically begin between the ages of two and three. This is the most common type of muscular dystrophy, with over half of patients being diagnosed with this variety.
In 1987, the protein associated with this gene was identified and named dystrophin. What are the different types of muscular dystrophy md. Diagnosis, neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management pdf icon pdf 509 kb external icon. There are more than 20 different subtypes each caused by alterations to different genes. Muscular dystrophy is an inherited genetic disorder causing muscle weakness. Though the most common types appear during childhood, other forms affect adults only. Muscular dystrophy is a group of inherited diseases that damage and weaken your muscles over time. Dystrophy, myotonic dystrophy types 1 and 2, ullrich congenital muscular dystrophy, congenital muscular dystrophy type 1a, facioscapulohumeral muscular dystrophy and limbgirdle muscular dystrophy types 2a, 2b, 2c and 2d recently renamed as limbgirdle muscular dystrophy r1 calpain3related, r2 dysferlinrelated, r5. Dec 18, 2017 there are different types of muscular dystrophy, including the following. Some types of muscular dystrophy affect only males. Jan 31, 2020 muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. This article discusses this condition and its types. Muscular dystrophy md is a group of muscle diseases that results in increasing weakening and breakdown of skeletal muscles over time.
Electrophysiologists are asked to participate in the care of muscular dystrophy. When dystrophin is reduced or absent, the muscles break down, eventually causing problems with movements, including walking, speaking, and breathing. Other tests that can be done for differential diagnosis are chest xray, echocardiogram, ct scan, and magnetic resonance image scan 15. But prolonged use of these types of drugs can cause weight gain and weakened bones, increasing fracture risk. Bmd belongs to a group of dystrophinopathies including duchenne. The symptom of muscle weakness usually begins around the age of four in boys. There are a number of different types of muscular dystrophy, each with different symptoms, causes, progression, and related complications. The severity, age of onset, and features of limbgirdle. Becker muscular dystrophy affects the muscles of the hips, pelvic area, thighs, and shoulders, as well as the heart. The four types of muscular dystrophy md described in this pamphlet congenital muscular dystrophy cmd. There are 9 types of muscular dystrophy, with each type involving an eventual loss of strength, increasing disability, and possible deformity. Pdf muscular dystrophies include a heterogeneous series of.
Pdf duchenne muscular dystrophy is a muscle disease caused by mutation in the gene that encodes the cytoskeletal protein dystrophin. Limbgirdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. This article discusses this condition and its types in details. Duchenne muscular dystrophy dmd is a progressive form of muscular dystrophy that occurs primarily in males, though in rare cases may affect females. Muscular dystrophy is a group of inherited diseases characterized by weakness and wasting away of muscle tissue, with or without the breakdown of nerve tissue. The main sign of muscular dystrophy is progressive muscle weakness. Duchenne dystrophy this is the most severe type of muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophy. Therapeutic approaches for muscular dystrophy gene therapy represents a major area of research in the muscular dystrophy field promising. The muscles most affected are those closest to the. Please use one of the following formats to cite this article in your essay, paper or report. There are more than 30 forms of muscular dystrophy md, with information on the primary types included in the table below. Facts about rare muscular dystrophies muscular dystrophy.
Myotonic dystrophy type 2, one of the two types of myotonic dystrophy, is an inherited muscular dystrophy that affects the muscles and other body systems e. Muscular dystrophy is a group of inherited diseases characterized by weakness and wasting. Symptoms of the most common variety begin in childhood, mostly in boys. Duchenne muscular dystrophy and becker muscular dystrophy are x linked recessive disorders characterized by the changes in the levels of dystrophin. Muscular dystrophy symptoms and causes mayo clinic. In muscular dystrophy, abnormal genes mutations interfere with the production of proteins needed to form healthy muscle. Dystrophinopathies, dmd and becker muscular dystrophy.
Limbgirdle muscular dystrophy lgmd is a clinically and pathologically similar, but genetically heterogeneous, disease group. Mar 31, 2019 muscular dystrophy md is a group of inherited diseases in which the muscles that control movement called voluntary muscles progressively weaken. Dmd is caused by a deficiency of dystrophin, a protein that helps strengthen muscle fibers and protect them from injury. Myotonic dystrophy modified from o brien and kunkel, children s hospital, boston.
However, its often the smaller muscles that are affected first, such as those in the face, jaw and neck. Md affects the muscles, while ms affects the central nervous system. The different types can vary in whom they affect, which muscles they affect, and what the symptoms are. Dmd is caused by a lack of the protein dystrophin, and without it, the muscle cells cannot stay intact. Typically diagnosed in boys between three and five years old, dmd is a fastprogressing condition which leaves patients unable to walk by their early teens. Duchenne muscular dystrophy dmd dmd is one of the more severe forms of the disease as most people with dmd are not expected to live past their 30s. Diseases bmd top level muscular dystrophy association. Some types of muscular dystrophy are defined by a specific feature or by where in the body symptoms first begin. Limbgirdle muscular dystrophy genetics home reference.
Types of neuromuscular disorders neuromuscular disorders is a term that encompasses many different medical conditions that impair the functioning of the muscles. The disorders differ in which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. In some types of muscular dystrophy, symptoms begin in childhood. Myotonic dystrophy type 2 genetic and rare diseases. Duchenne muscular dystrophy is also more common among children, and the majority affected are boys. Duchenne muscular dystrophy dmd was first described by the french neurologist guillaume benjamin amand duchenne in the 1860s. Arrhythmias in the muscular dystrophies heart rhythm. Muscular dystrophy md is a group of more than 30 inherited diseases. Until the 1980s, little was known about the cause of any kind of muscular dystrophy. Duchenne muscular dystrophy is an xlinked recessive disorder characterized by the absence of gene product dystrophin, which is essential for the stability of cell membrane. May 07, 2020 duchenne muscular dystrophy dmd is a progressive form of muscular dystrophy that occurs primarily in males, though in rare cases may affect females. The four types of mus cular dystrophy md described in this booklet congenital muscular dystro.
This is the key difference between duchenne and becker muscle dystrophy. Cmd is the second most common cause of muscular dystrophy in japan, but is rare in other countries. The histopathological features of muscular dystrophies. Although girls can be carriers and mildly affected, its much more common in boys. First of all, the muscle biopsy is useful to exclude other disorders that are not cdmrelated, such as neurogenic changes clear fibertype grouping with oxidative. Corticosteroids, such as prednisone and deflazacort emflaza, which can help muscle strength and delay the progression of certain types of muscular dystrophy.
Feb 10, 2014 myotonic dystrophy type 2, one of the two types of myotonic dystrophy, is an inherited muscular dystrophy that affects the muscles and other body systems e. Here is more information about nine of the most common forms. Muscular dystrophy refers to a group of genetic diseases that cause progressive muscle weakness and loss. The most common adult form of md, myotonic md appears in two forms, type 1. According to the national institutes of health nih there are more than 30 different types of muscular dystrophy md. Muscular dystrophy md is a group of disorders that cause the bodys muscles to become increasingly weak. Duchenne muscular dystrophy genetic and rare diseases. Disruption of gene expression or chromosomal organization.
Muscular dystrophy is a term that refers to a number of diseases that cause progressive loss of muscle mass resulting in weakness and, sometimes, loss of mobility. Oct 21, 2016 muscular dystrophy is a term that refers to a number of diseases that cause progressive loss of muscle mass resulting in weakness and, sometimes, loss of mobility. The most common and severe form of md among children, dmd accounts for more than 50% of all cases. It is characterized by prolonged muscle tensing myotonia as well as muscle weakness, pain, and stiffness.
Below is an overview of the nine different types of muscular dystrophy. See more ideas about myotonic dystrophy, muscular dystrophies and muscular dystrophy types. Types of muscular dystrophy and neuromuscular diseases. There are more than 30 forms of muscular dystrophy md, with information on. Muscular dystrophy is caused by defects in certain genes, with type determined by the abnormal gene. Types of ataxia muscular dystrophy pune ataxia support. Muscular dystrophy is a group of progressive inherited disorders that affects the voluntary muscles and the involuntary muscles at the later stages.
As with other types of muscular dystrophy, myotonic dystrophy involves progressive muscle weakness and muscle wasting. Shamanthakamani narendran m u s c u l a r d y s t r o p h y m. Also known as steinerts disease, this form is characterized by an inability to relax muscles at will following contractions. Muscular dystrophies are a heterogeneous group of hereditary illnesses affecting. There are different types of muscular dystrophy, which vary as to how severe they are, ranging from very mild to severe. Diagnostic approach to the congenital muscular dystrophies. The muscular dystrophies are a group of inherited diseases affecting skeletal muscle that also affect cardiac muscle. Muscular dystrophy causes, types, symptoms, prognosis. Diagnosis and management of duchenne muscular dystrophy, part 1. Electrophysiologists are asked to participate in the care of muscular dystrophy patients because of the risk of atrial arrhythmias, conduction disease, bradycardia. Myotonic dystrophy can appear at any time between birth and old age. Dec 16, 2019 muscular dystrophy md is a collective group of inherited noninflammatory but progressive muscle disorders without a central or peripheral nerve abnormality. To learn more about some of the causes, symptoms, progression and management of a specific neuromuscular disorder, select the name of the condition from the list below.
Muscular dystrophy, hereditary disease that causes progressive weakness and degeneration of the skeletal muscles. Definition one of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles. Of the several types of muscular dystrophy, the more common are duchenne, facioscapulohumeral, becker, limbgirdle, and myotonic dystrophy. One in three thousand male infants are affected by this condition. The muscular dystrophies are a group of genetic diseases that cause weakness and muscle wasting, primarily in the skeletal or voluntary muscles those we control such as the muscles of the arms and legs. It is clinically characterized by progressive weakness predominantly in.
Specific signs and symptoms begin at different ages and in different muscle groups, depending on the type of muscular dystrophy. Becker muscular dystrophy bmd is named after the german doctor. Cardiac involvement occurs as a degenerative process with fibrosis and fatty replacement of the myocardium. Cause a repeated section of dna on either chromosome 19 or. In 1986, mdasupported researchers identified the gene that, when flawed a problem known as a mutation causes dmd. All types of muscular dystrophy are caused by genetic. The muscular dystrophies are a group of hereditary disorders characterized by progressive muscular atrophy and weakness. The disease affects the muscles with definite fiber degeneration but without evidence of morphologic aberrations. These articles outline the latest in clinical care to help families and healthcare professionals manage duchenne muscular dystrophy. Dec 19, 2016 duchenne muscular dystrophy dmd dmd is the most common form of the disease and approximately half of all pediatric patients have this severe type. Musculardystrophyfor pdf urmc university of rochester. Discover muscular dystrophy types of neuromuscular disorders.