Cardiac involvement occurs as a degenerative process with fibrosis and fatty replacement of the myocardium. Bmd belongs to a group of dystrophinopathies including duchenne. Until the 1980s, little was known about the cause of any kind of muscular dystrophy. Becker muscular dystrophy affects the muscles of the hips, pelvic area, thighs, and shoulders, as well as the heart.
Specific signs and symptoms begin at different ages and in different muscle groups, depending on the type of muscular dystrophy. 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. Electrophysiologists are asked to participate in the care of muscular dystrophy. Dec 18, 2017 there are different types of muscular dystrophy, including the following. It is characterized by prolonged muscle tensing myotonia as well as muscle weakness, pain, and stiffness. The muscular dystrophies are a group of inherited diseases affecting skeletal muscle that also affect cardiac muscle. The symptom of muscle weakness usually begins around the age of four in boys. See more ideas about myotonic dystrophy, muscular dystrophies and muscular dystrophy types. Jan 09, 2019 muscular dystrophy md and multiple sclerosis ms target the body differently. 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. The four types of muscular dystrophy md described in this pamphlet congenital muscular dystrophy cmd. Although girls can be carriers and mildly affected, its much more common in boys. Other tests that can be done for differential diagnosis are chest xray, echocardiogram, ct scan, and magnetic resonance image scan 15. In some types of muscular dystrophy, symptoms begin in childhood.
These articles outline the latest in clinical care to help families and healthcare professionals manage duchenne muscular dystrophy. The most common and severe form of md among children, dmd accounts for more than 50% of all cases. In 1987, the protein associated with this gene was identified and named dystrophin. There are different types of muscular dystrophy, including the following. There are more than 30 forms of muscular dystrophy md, with information on. The muscular dystrophies are a group of hereditary disorders characterized by progressive muscular atrophy and weakness. Limb girdle muscular dystrophy lgmd is the common name for a diverse group of muscular dystrophies affecting mainly the pelvic hip and shoulder regions. The different types also vary as to what age they begin. Myotonic dystrophy can appear at any time between birth and old age. Limbgirdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs.
According to the national institutes of health nih there are more than 30 different types of muscular dystrophy md. Below is an overview of the nine different types of muscular dystrophy. Types of neuromuscular disorders muscular dystrophy canada. The four types of mus cular dystrophy md described in this booklet congenital muscular dystro. The different types can vary in whom they affect, which muscles they affect, and what the symptoms are. Duchenne muscular dystrophy genetic and rare diseases. Though the most common types appear during childhood, other forms affect adults only. 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. 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. When dystrophin is reduced or absent, the muscles break down, eventually causing problems with movements, including walking, speaking, and breathing.
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. Muscular dystrophy is an inherited genetic disorder causing muscle weakness. Myotonic dystrophy modified from o brien and kunkel, children s hospital, boston. Muscular dystrophy causes, types, symptoms, prognosis. However, its often the smaller muscles that are affected first, such as those in the face, jaw and neck. Muscular dystrophy is a group of progressive inherited disorders that affects the voluntary muscles and the involuntary muscles at the later stages. Muscular dystrophy md is a group of more than 30 inherited diseases.
In duchenne muscular dystrophy, dystrophin is absent but in becker muscle dystrophy, dystrophin is present albeit at low levels. Types of muscular dystrophy and neuromuscular diseases. Diagnosis, neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management pdf icon pdf 509 kb external icon. The disease affects the muscles with definite fiber degeneration but without evidence of morphologic aberrations. Muscular dystrophies are a heterogeneous group of hereditary illnesses affecting. Diseases bmd top level muscular dystrophy association. The main sign of muscular dystrophy is progressive muscle weakness. Shamanthakamani narendran m u s c u l a r d y s t r o p h y m.
Some types of muscular dystrophy affect only males. One in three thousand male infants are affected by this condition. Discover muscular dystrophy types of neuromuscular disorders. Neuromuscular disorders is a term that encompasses many different medical conditions that impair the functioning of the muscles. Diagnosis and management of duchenne muscular dystrophy, part 1.
There are different types of muscular dystrophy, which vary as to how severe they are, ranging from very mild to severe. As with other types of muscular dystrophy, myotonic dystrophy involves progressive muscle weakness and muscle wasting. Duchenne muscular dystrophy and becker muscular dystrophy are x linked recessive disorders characterized by the changes in the levels of dystrophin. There are more than 30 forms of muscular dystrophy md, with information on the primary types included in the table below. Types of neuromuscular disorders neuromuscular disorders is a term that encompasses many different medical conditions that impair the functioning of the muscles. Dystrophinopathies, dmd and becker muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophy. Definition one of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles. The muscles most affected are those closest to the body proximal muscles, specifically the muscles of the shoulders, upper arms, pelvic area, and thighs.
There are more than 30 types of muscular dystrophy, all with different causes and symptoms. 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. There are many different kinds of muscular dystrophy, each affecting different groups of muscles. Diagnostic approach to the congenital muscular dystrophies. This is the key difference between duchenne and becker muscle dystrophy. Duchenne dystrophy this is the most severe type of muscular dystrophy. 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. Electrophysiologists are asked to participate in the care of muscular dystrophy patients because of the risk of atrial arrhythmias, conduction disease, bradycardia. 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 muscles most affected are those closest to the. Also known as steinerts disease, this form is characterized by an inability to relax muscles at will following contractions. Myotonic dystrophy type 2 genetic and rare diseases. 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.
What are the different types of muscular dystrophy md. Muscular dystrophy symptoms and causes mayo clinic. Dmd is caused by a lack of the protein dystrophin, and without it, the muscle cells cannot stay intact. Pdf muscular dystrophies include a heterogeneous series of. The histopathological features of muscular dystrophies.
There are various types of muscular dystrophy that can cause weakness and loss of tissues in these muscles. Duchenne muscular dystrophy is also more common among children, and the majority affected are boys. Duchenne muscular dystrophy dmd is a progressive form of muscular dystrophy that occurs primarily in males, though in rare cases may affect females. Types of ataxia muscular dystrophy pune ataxia support. Dmd is caused by a deficiency of dystrophin, a protein that helps strengthen muscle fibers and protect them from injury. Dmd causes progressive weakness and loss atrophy of skeletal and heart muscles. The absence of other vital muscle proteins not shown leads to muscular dystrophies not covered in this booklet, such as duchenne md.
Muscular dystrophy is a group of inherited diseases characterized by weakness and wasting. Of the several types of muscular dystrophy, the more common are duchenne, facioscapulohumeral, becker, limbgirdle, and myotonic dystrophy. The most common adult form of md, myotonic md appears in two forms, type 1. This article discusses this condition and its types.
Mar 31, 2019 muscular dystrophy md is a group of inherited diseases in which the muscles that control movement called voluntary muscles progressively weaken. Muscular dystrophy md is a group of muscle diseases that results in increasing weakening and breakdown of skeletal muscles over time. Pdf duchenne muscular dystrophy is a muscle disease caused by mutation in the gene that encodes the cytoskeletal protein dystrophin. Corticosteroids, such as prednisone and deflazacort emflaza, which can help muscle strength and delay the progression of certain types of muscular dystrophy. Difference between duchenne and becker muscle dystrophy. 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. There are 9 types of muscular dystrophy, with each type involving an eventual loss of strength, increasing disability, and possible deformity. Musculardystrophyfor pdf urmc university of rochester.
Md affects the muscles, while ms affects the central nervous system. Muscular dystrophy, hereditary disease that causes progressive weakness and degeneration of the skeletal muscles. This article discusses this condition and its types in details. There are more than 20 different subtypes each caused by alterations to different genes. Muscular dystrophy refers to a group of genetic diseases that cause progressive muscle weakness and loss.
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. Facts about rare muscular dystrophies muscular dystrophy. Limbgirdle muscular dystrophy genetics home reference. Muscular dystrophy md is a group of disorders that cause the bodys muscles to become increasingly weak. 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. Muscular dystrophy is a group of inherited diseases that damage and weaken your muscles over time. Some types of muscular dystrophy are defined by a specific feature or by where in the body symptoms first begin. Jan 31, 2020 muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. Mdc1a muscular dystrophy, congenital, type 1a refers to disease caused by mutations in lama2, but this nomenclature system has not been systematically. Cmd is the second most common cause of muscular dystrophy in japan, but is rare in other countries. The disorders differ in which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Symptoms of the most common variety begin in childhood, mostly in boys.
In 1986, mdasupported researchers identified the gene that, when flawed a problem known as a mutation causes dmd. Cause a repeated section of dna on either chromosome 19 or. Dec 16, 2019 muscular dystrophy md is a collective group of inherited noninflammatory but progressive muscle disorders without a central or peripheral nerve abnormality. In muscular dystrophy, abnormal genes mutations interfere with the production of proteins needed to form healthy muscle. 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. Muscular dystrophy diagnosis and treatment mayo clinic. Disruption of gene expression or chromosomal organization. Please use one of the following formats to cite this article in your essay, paper or report. Becker muscular dystrophy bmd is named after the german doctor. Becker muscular dystrophy bmd is one of nine types of muscular dystrophies, a group of genetic, degenerative diseases primarily affecting voluntary muscles. 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. 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. But prolonged use of these types of drugs can cause weight gain and weakened bones, increasing fracture risk.
In most varieties duchenne muscular dystrophy is the most common childhood form of the disease. Muscular dystrophy is caused by defects in certain genes, with type determined by the abnormal gene. Duchenne muscular dystrophy dmd was first described by the french neurologist guillaume benjamin amand duchenne in the 1860s. 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. Limbgirdle muscular dystrophy lgmd is a clinically and pathologically similar, but genetically heterogeneous, disease group. Arrhythmias in the muscular dystrophies heart rhythm. It is clinically characterized by progressive weakness predominantly in. It is a sexlinked disorder, meaning that it strikes males almost exclusively. This is the most common type of muscular dystrophy, with over half of patients being diagnosed with this variety. Here is more information about nine of the most common forms. Symptoms for this type of muscular dystrophy will typically begin between the ages of two and three. Therapeutic approaches for muscular dystrophy gene therapy represents a major area of research in the muscular dystrophy field promising.
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