Myotonic muscular dystrophy dm is a type of muscular dystrophy. Diagnostic approach to the congenital muscular dystrophies. 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. Types of muscular dystrophy and neuromuscular diseases. Aug 23, 2018 please use one of the following formats to cite this article in your essay, paper or report.
It is a serious condition which starts in early childhood. For example, duchenne muscular dystrophy is thought t be the result of a single gene defect thought to be caused by a deletion of a segment of deoxyribonucleic acid carroll, 2008, p 1633. Types of muscular dystrophy and neuromuscular diseases what are the different types of muscular dystrophy. Muscular dystrophy is a group of inherited diseases characterized by weakness and wasting away of muscle. Historically, diagnosis and evaluation of disease progression depend on clinical, pathologic, and. There are more than 30 forms of muscular dystrophy md, with information on the primary types included in the table below. What are the different types of muscular dystrophy md. Are there other muscular dystrophy mdlike conditions. Home discover muscular dystrophy types of neuromuscular disorders. Muscular dystrophy is a collective name for a group of hereditary muscular disorders that causes weakening and eventual breakdown of the skeletal muscles over time. The first signs of becker muscular dystrophy may be trouble walking fast, running, and climbing stairs. Myotonic muscular dystrophy is the most common form in. Life expectancy is estimated to be around 2526, but this varies.
Muscular dystrophy discharge care what you need to know. It covers symptoms and diagnosis, effects of the condition, treatment and offers caregiving tips. Becker muscular dystrophy genetic and rare diseases. As with other types of muscular dystrophy, myotonic dystrophy involves progressive muscle weakness and muscle wasting. Types of neuromuscular disorders muscular dystrophy canada. The disorders differ in which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Duchenne dystrophy this is the most severe type of muscular dystrophy. Though this is a rare condition, there are over 30 different types of muscular dystrophy. However, over the past few decades, researchers finally discovered that genetic mutations were responsible for all nine types of. Specific signs and symptoms begin at different ages and in different muscle groups, depending on the type of muscular dystrophy. All types of muscular dystrophy slowly get worse, but how fast this happens varies widely. Muscular dystrophy is a blanket term that refers to a group of inherited disorders associated with muscle weakness andor the loss of muscle tissue. Fukuyama congenital muscular dystrophy is seen almost exclusively in japan, where it is the second most common form of childhood muscular dystrophy after duchenne muscular dystrophy.
Some types of muscular dystrophy, such as duchenne muscular dystrophy in boys, are deadly. Duchenne muscular dystrophy dmd dmd is the most common form of the disease and approximately half of all. Shamanthakamani narendran m u s c u l a r d y s t r o p h y m. The muscular dystrophy association mda is committed to keeping.
Muscular dystrophy is caused by defects in certain genes, with type determined by the abnormal gene. Until the 1980s, little was known about the cause of any kind of muscular dystrophy. This article discusses this condition and its types in details. Muscular dystrophy symptoms and causes mayo clinic. The most common and severe form of md among children, dmd accounts for more than 50% of all cases. Muscular dystrophy is a group of conditions that are seen within the special education environment.
It first appears in very early childhoodonly in boysand progresses rapidly. Dec 19, 2016 according to the national institutes of health nih there are more than 30 different types of muscular dystrophy md. Muscular dystrophy refers to a group of genetic diseases that cause progressive muscle weakness and loss. Myotonic muscular dystrophy musculardytrophyassociation. However, its often the smaller muscles that are affected first, such as those in the face, jaw and neck. Different types of dystrophy affect different muscle groups. What type of muscular dystrophy occurs in adults over age 40. Limbgirdle muscular dystrophy or lgmd is a genetically and clinically heterogeneous group of rare muscular dystrophies. Advances in basic research are essential to the basic understanding of each type of md. Duchenne muscular dystrophy dmd dmd is the most common form of the disease and approximately half of all pediatric patients have this severe type. Symptoms of the most common variety begin in childhood, mostly in boys. The main sign of muscular dystrophy is progressive muscle weakness. Distal muscular dystrophy dmd is a type of muscular dystrophy that affects the distal muscles of the body such as the forearm, hands, legs and feet.
Exercise advice for adults with musclewasting conditions. Diagnosis and management of duchenne muscular dystrophy. Myotonic dystrophy type 2 genetic and rare diseases. Muscular dystrophy md is a group of inherited diseases in which the muscles that control movement called voluntary muscles progressively weaken. Duchenne muscular dystrophy dmd is an earlyonset genetic muscle degenerative disease characterized by progressive muscle weakness, atrophy and replacement of myofibers by fat and scar tissue bushby, 2000. Of the several types of muscular dystrophy, the more common are duchenne, facioscapulohumeral, becker, limbgirdle, and myotonic dystrophy. Muscular dystrophy md is an inherited disease that causes weakness and loss of muscle. Congenital muscular dystrophy type 1a mdc1a belongs to a group of neuromuscular disorders that beings at birth or infancy and is characterized mainly by hypotonia, muscle weakness. There are several types, such as duchenne and becker muscular dystrophy, that affect muscles in different parts of your body.
Facioscapulohumeral muscular dystrophy genetics home. Mdc1a muscular dystrophy, congenital, type 1a refers to disease caused by mutations in lama2, but this nomenclature system has not been systematically. Facts about rare muscular dystrophies muscular dystrophy. Eichsfeld type congenital muscular dystrophy conditions. Similarly, becker muscular dystrophy is also caused by deformities in the xlink. Muscular dystrophy md is a group of genetic disorders that gradually weakens and damages the muscles. Muscular dystrophy md is a degenerative muscle disease causing. Muscular dystrophy is a group of progressive inherited disorders that affects the voluntary muscles and the involuntary muscles at the later stages. Other types cause little disability and people have a normal lifespan. Since the publication of the duchenne muscular dystrophy dmd care considerations in 2010, multidisciplinary care of this severe, progressive neuromuscular disease has evolved. Guide to the types of muscular dystrophy healthprep. Muscular dystrophy md is a group of inherited diseases in which the voluntary muscles progressively weaken overtime. All types of muscular dystrophy are caused by genetic mutations that affect muscle proteins, but the exact mutations and results vary depending on the type.
They result in multisystem disorders characterized by skeletal muscle weakness and myotonia difficulty relaxing muscles after use, cardiac abnormalities, cataracts, and other abnormalities. There are a number of different types of muscular dystrophy, each with different symptoms, causes, progression, and related complications. In some types of muscular dystrophy, symptoms begin in childhood. Muscular dystrophy, hereditary disease that causes progressive weakness and degeneration of the skeletal muscles. Duchenne muscular dystrophy dmd is a genetic muscle disorder that affects one per 3,5005,000 liveborn males. In 1986, mdasupported researchers identified the gene that, when flawed a problem known as a mutation causes dmd. Definition one of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles. Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy. Some forms of md are seen in newborns, infants or children, while others have lateonset and may not appear until middle age or later. The weakness develops gradually, usually noticeable by the age of three. Muscular dystrophy information mount sinai new york. At one time, there wasnt much information on muscular dystrophy.
The different types can vary in whom they affect, which muscles they affect, and what the symptoms are. A majority of congenital muscular dystrophy types, a rare form of emerydreifuss muscular dystrophy, as well as some types of limbgirdle muscular dystrophy. Muscular dystrophy is a group of over 30 conditions that lead to muscle weakness and degeneration. Compositional analysis of muscle in boys with duchenne muscular dystrophy using mr imaging.
Fukuyama congenital muscular dystrophy genetics home. Sometimes two or more forms are present in the same patient. Duchenne muscular dystrophy is a rare progressive disease which eventually affects all voluntary muscles and involves the heart and breathing muscles in later stages. Becker muscular dystrophy is like duchenne, except milder. It is characterised by progressive muscle wasting which affects predominantly. As described in a seminar in this issue of the lancet, the mean life expectancy today for individuals with duchenne muscular dystrophy, the most common form of muscular dystrophy. Pdf congenital muscular dystrophies cmds are a wide group of muscular. Feb 16, 2011 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 movement. 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.
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. Understanding muscular dystrophy this fact sheet explains what muscular dystrophy is, the main types, who it affects and the cause. As the condition progresses, it becomes harder to move. Duchenne muscular dystrophy is the most common type of muscular dystrophy diagnosed in childhood. The tables below show data on males with duchenne or becker muscular dystrophy in five md star net sites during the years 19822011. The muscle weakness is not noticeable at birth, even though the child is born with the gene which causes it. Myotonic dystrophy dm muscular dystrophy association. The four types of mus cular dystrophy md described in this booklet congenital muscular dystro phy cmd, distal muscular dystrophy. With excellent medical care males are often living into their 30s. Other, rarer types of muscular dystrophy have been identified, including a distal type that begins in the peripheral muscles of the extremities and one that affects only muscles of the eye.
The four types of muscular dystrophy md described in this pamphlet congenital muscular dystrophy cmd, distal muscular dystrophy dd, emerydreifuss muscular dystrophy edmd and oculopharyngeal muscular dystrophy opmd are among the rarer forms of muscular dystrophy. Though the most common types appear during childhood, other forms affect adults only. Although girls can be carriers and mildly affected, its much more common in boys. Dmd is caused by a deficiency of dystrophin, a protein that helps strengthen muscle fibers and protect them from injury. Different types of muscular dystrophy affect different muscles, have different symptoms, and vary in severity.
Congenital muscular dystrophy cmd is a clinically and genetically heterogeneous group of inherited muscle disorders. Muscular dystrophy causes, types, symptoms, prognosis. Muscular dystrophy is one of the rare diseases that cause progressive weakness and degeneration of skeletal muscles used during voluntary movement. Oct 29, 2015 muscular dystrophy is a group of genetic diseases that result in progressive weakness and loss of muscle mass. Cmd is the second most common cause of muscular dystrophy in japan, but is rare in other countries. Types of ataxia muscular dystrophy pune ataxia support. In 1987, the protein associated with this gene was identified and named dystrophin. It also affects boys but the symptoms start later between ages 11 and 25. Muscular dystrophy genetic and rare diseases information. Compositional analysis of muscle in boys with duchenne muscular dystrophy. Muscular dystrophy campaign, 61a great suffolk street, london se1 0bu t. This condition gets its name from the muscles that are affected most often. Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting atrophy. Keep reading to learn more about the different types of muscular dystrophy now.
Neuromuscular disorders is a term that encompasses many different medical conditions. Jan 31, 2020 muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. Muscular dystrophy, short classification definition of. Duchenne muscular dystrophy an overview sciencedirect topics. Advances in medical management in the 21st century have led to dramatically improved outcomes for individuals with muscular dystrophy. The severity of disability depends on the type of muscular dystrophy. Duchenne muscular dystrophy is the most common type 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. They also need to understand that in some types of muscular dystrophy. Incomplete records may cause the totals in each table to differ. Muscular dystrophy is a group of inherited diseases characterized by weakness and wasting. Muscle weakness typically presents from birth to early infancy. Muscle weakness that starts in the pelvis, shoulders, hips, and.
Treatment focuses on symptom management and can include steroids, physical therapy, breathing support devices and surgery. The histopathological features of muscular dystrophies gulden diniz. There are various types of muscular dystrophy that can cause weakness and loss of tissues in these muscles. Muscular dystrophy md is a group of muscle diseases that results in increasing weakening and breakdown of skeletal muscles over time. Muscular dystrophy md is a group of more than 30 inherited diseases. Myotonic dystrophy dm includes two major types dm1 and dm2 both caused by genetic defects. What are the different types of muscular dystrophy. Facts about rare muscular dystrophies md australia. Therapeutic approaches for muscular dystrophy gene therapy represents a major area of research in the muscular dystrophy field promising. Weakness is mainly proximal and the muscular dystrophies alan e h emery seminar the muscular dystrophies are inherited myogenic disorders characterised by progressive muscle wasting and weakness of variable distribution and severity. There are many different types of muscular dystrophy based on the age of onset, severity and pattern of inheritance, of which duchenne and becker muscular. Multiple sclerosis ms is an immunemediated disorder of the central nervous. In 1986, researchers discovered the gene that, when defective or flawed, causes duchenne.
Here is more information about nine of the most common forms. Becker muscular dystrophy bmd is an inherited condition that causes progressive weakness and wasting of the skeletal and cardiac heart muscles. In 1986, mdasupported researchers identified the gene that, when flawed a problem. The most common adult form of md, myotonic md appears in two forms, type 1. Many types of muscular dystrophy are diagnosed in childhood, but there are several types that can appear during adolescence and adulthood.
This is the most common form of muscular dystrophy. Some types of muscular dystrophy affect only males. In muscular dystrophy, abnormal genes mutations interfere with the production of proteins needed to form healthy muscle. Types of muscular dystrophy and neuromuscular diseases health. Congenital muscular dystrophy type 1a genetic and rare. Duchenne muscular dystrophy dmd is a genetic condition which affects the muscles, causing muscle weakness. Muscular dystrophy an overview sciencedirect topics. There are more than 30 forms of muscular dystrophy md, with information on. Muscular dystrophies are degenerative muscle diseases due to mutations in proteins ranging. There are 9 types of muscular dystrophy, with each type involving an eventual loss of strength, increasing disability, and possible deformity. In some cases, it can also lead to difficulty eating, drinking, or breathing. There are more than 30 types of muscular dystrophy, all with different causes and symptoms. It is characterized by prolonged muscle tensing myotonia as well as muscle weakness, pain, and stiffness. While many genes that cause muscular dystrophy still remain to be identified, advances in gene sequencing has aided the identification of genes that may be involved for most types of muscular dystrophy.
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