Duchenne Muscular Dystrophy - NORD (National Organization for Rare Disorders) (2023)

Duchenne Muscular Dystrophy

NORD gratefully acknowledges Gyula Acsadi, MD, PhD, Professor of Pediatrics, University of Connecticut, School of Medicine, Chief of Neurology Division, Connecticut Children's Medical Center, for assistance in the preparation of this report.

Synonyms of Duchenne Muscular Dystrophy

  • DMD
  • dystrophinopathy
  • pseudohypertrophic myopathy

General Discussion


Duchenne muscular dystrophy (DMD) is a rare muscle disorder but it is one of the most frequent genetic conditions affecting approximately 1 in 3,500 male births worldwide. It is usually recognized between three and six years of age. DMD is characterized by weakness and wasting (atrophy) of the muscles of the pelvic area followed by the involvement of the shoulder muscles. As the disease progresses, muscle weakness and atrophy spread to affect the trunk and forearms and gradually progress to involve additional muscles of the body. In addition, the calves appear enlarged in most patients. The disease is progressive and most affected individuals require a wheelchair by the teenage years. Serious life-threatening complications may ultimately develop including disease of the heart muscle (cardiomyopathy) and breathing (respiratory) difficulties.

DMD is caused by changes (mutations) of the DMD gene on the X chromosome. The gene regulates the production of a protein called dystrophin that is found in association with the inner side of the membrane of skeletal and cardiac muscle cells. Dystrophin is thought to play an important role in maintaining the membrane (sarcolemma) of muscle cells.


Muscular dystrophies are characterized by specific abnormalities (e.g. variation of muscle fiber size, muscle fiber necrosis, scar tissue formation and inflammation) in muscle biopsy from the patients. Approximately 30 different genetic conditions make up the muscular dystrophies. DMD is classified as a dystrophinopathy. The dystrophinopathies are a spectrum of muscle diseases, each caused by alterations in the dystrophin gene. The most severe end of the spectrum is known as Duchenne muscular dystrophy lacking completely dystrophin protein. Decreased or truncated dystrophin protein is associated with less severe form is Becker muscular dystrophy.

The clinical hallmarks of DMD include weakness and wasting of various voluntary muscles of the body. In most advanced stages of the disease, the heart and gut muscles will be affected.

Signs & Symptoms

DMD usually becomes apparent early during childhood. Affected children develop weakness and wasting (atrophy) of the muscles closest to the trunk (proximal muscles) such as those of the upper legs and pelvic area and upper arms and shoulder area. However, a few other muscles appear disproportionally bulky. As the disease progresses, muscle weakness and atrophy spread to affect the lower legs, forearms, neck and trunk. The rate of progression is quite similar from person to person but individual variation may happen.

In children with DMD, initial findings may include delays in reaching developmental milestones such as sitting or standing without assistance; toe walking; an unusual, waddling manner of walking (gait); difficulty climbing stairs or rising from a sitting position (Gower’s sign); and repeated falling. Toddlers and young children may seem awkward and clumsy and may exhibit abnormal enlargement of the calves due to scarring of muscles (pseudohypertrophy). Parents may be falsely encouraged by an apparent improvement between the ages of 3 and 5, but this may be due to natural growth and development. As the disease progresses, additional abnormalities may develop such as progressive curvature of the spine (scoliosis or lordosis), wasting of thigh and pectoral muscles, and abnormal fixation of certain joints (contractures). A contracture occurs when thickening and shortening of tissue such as muscle fibers causes deformity and restricts movement of affected areas, especially the joints. Without physical therapy treatment, leg braces may be needed by age 8-9 to assist affected individuals to walk. By approximately ages 10 to 12, most affected individuals require a wheelchair.

Children with DMD have reduced bone density and an increased risk of developing fractures of certain bones, such as hips and spine. Many affected individuals will display mild to moderate degrees of non-progressive intellectual impairment and learning disabilities.

By the late teens, DMD may also be characterized by additional potentially life-threatening complications including weakness and deterioration of the heart muscle (cardiomyopathy). Cardiomyopathy can result in impairment in the ability of the heart to pump blood, irregular heartbeats (arrhythmias), and heart failure. Another serious complication associated with DMD is weakness and deterioration of muscles in the rib cage. This can result in an increased susceptibility to respiratory infections (e.g., pneumonia), difficulty coughing, and, ultimately, respiratory failure.

Involvement of muscles within the gastrointestinal tract may result in dysmotility, a condition in which the passage of food through the digestive tract usually because of slow and uncoordinated movements of the muscles of the digestive tract. Gastrointestinal dysmotility may result in constipation and diarrhea.

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One third of patients with DMD may have various degree of cognitive impairment including learning disability, attention deficit and autistic spectrum disorder.


DMD is inherited as an X-linked disease. X-linked genetic disorders are conditions caused by an abnormal gene on the X chromosome and manifest mostly in males. Females that have a defective gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display symptoms because females have two X chromosomes and only one carries the defective gene. Males have one X chromosome that is inherited from their mother and if a male inherits an X chromosome that contains a defective gene he will develop the disease.

Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease and a 25% chance to have an unaffected son.

If a male with an X-linked disorder is able to reproduce, he will pass the defective gene to all of his daughters who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male offspring.

Some females who inherit a single copy of the disease gene for DMD (gene carriers or heterozygotes) may exhibit some of the symptoms associated with the disease such as weakness of certain muscles, especially those of the arms, legs, and back Carrier females who develop symptoms of DMD are also at risk for developing heart abnormalities, which may present as exercise intolerance or shortness of breath. If left untreated, heart abnormalities can cause life-threatening complications in such affected females.

DMD is caused by mutations of the DMD gene located on the short arm (p) of the X chromosome (Xp21.2). Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome Xp21.2” refers to band 21.2 on the short arm of the X chromosome. The numbered bands specify the location of the thousands of genes that are present on each chromosome.

The DMD gene regulates (encodes for) the production of dystrophin, a protein that appears to play an essential role in maintaining the integrity of cell membrane in skeletal (voluntary) and cardiac muscle cells. Dystrophin is found attached to the inner side of the membrane that surrounds muscle fibers. Mutation of the DMD gene will result in absence of the dystrophin protein, leading to degeneration of muscle fibers. The body can replace (regenerate) some muscle fibers, but over time more and more muscle fiber is lost. Such degeneration leads to the symptoms and findings associated with DMD. In Becker muscular dystrophy, a related disorder, dystrophin is present, but it is truncated or only present in insufficient levels to properly perform its functions.

Although most boys with DMD inherit the abnormal gene from their mothers, some may develop the diseases as the result of a spontaneous mutation of the dystrophin gene that occurs randomly for unknown reasons (de novo or sporadic cases).

Affected Populations

DMD is the most common childhood onset form of muscular dystrophy and affects males almost exclusively. The birth prevalence is estimated to be 1 in every 3,500 live male births. Age of onset is usually between 3 and 5 years of age. The muscular dystrophies as a whole are estimated to affect 250,000 individuals in the United States.

Related Disorders

Symptoms of the following disorders can be similar to those of DMD. Comparisons may be useful for a differential diagnosis.

Becker muscular dystrophy is in the category of inherited muscle wasting diseases caused by gene abnormalities (mutations) that result in deficient or abnormal production of the dystrophin protein (dystrophinopathies). The abnormal gene is the same as for DMD and is located on the X chromosome. Becker muscular dystrophy also follows X-linked inheritance so it mostly affects males, but some female carriers are affected. Becker muscular dystrophy usually begins in the teens or early twenties, but can begin as late as the sixties and symptoms vary greatly between affected individuals. Muscle weakness and deterioration progress slowly but usually results in the need for a wheelchair. Muscles of the heart deteriorate (cardiomyopathy) in some affected individuals more seriously than the skeletal muscles of the body, and this process can become life threatening potentially causing heart failure. Learning disabilities involving visual abilities may be present but rarely. In Becker muscular dystrophy, dystrophin levels are reduced where in DMD they are absent or nearly absent. Consequently, the symptoms of these two disorders are similar, but most cases of Becker muscular dystrophy are less severe. (For more information on this disorder, choose “Becker” as your search term in the Rare Disease Database.)

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Emery-Dreifuss muscular dystrophy (EDMD) is a rare, often slowly progressive genetic disorder affecting the muscles of the arms, legs, face, neck, spine and heart. The disorder consists of the clinical triad of weakness and degeneration (atrophy) of certain muscles, joints that are fixed in a flexed or extended position (contractures), and abnormalities affecting the heart (cardiomyopathy) in mainly adults. Major symptoms may include muscle wasting and weakness particularly in arms and lower legs (humeroperoneal regions) and contractures of the elbows, Achilles tendons, and upper back muscles. In some patients, additional abnormalities may be present. In most cases, EDMD is inherited as an X-linked or autosomal dominant trait. In extremely rare cases, autosomal recessive inheritance has been reported. Although EDMD has different modes of inheritance, the symptoms are nearly the same. (For more information on this disorder, choose “Emery Dreifuss” as your search term in the Rare Disease Database.)

Limb-girdle muscular dystrophy (LGMD) is a general term for a group of rare progressive genetic disorders that are characterized by wasting (atrophy) and weakness of the voluntary muscles of the hip and shoulder areas (limb-girdle area). Muscle weakness and atrophy are progressive and may spread to affect other muscles of the body. Approximately 15 different subtypes have been identified based upon abnormal changes (mutations) of certain genes. The age of onset, severity, and progression of symptoms of these subtypes varies greatly even among individuals in the same family. Some individuals may have a mild, slowly progressive form of the disease; other may have a rapidly progressive form that may cause severe disability. The various forms of LGMDs can now be distinguished by genetic and/or protein analysis. The various forms of LGMD may be inherited as an autosomal dominant or recessive trait. Autosomal dominant LGMD is known as LGMD1 and has five subtypes (LGMDA-E). Autosomal recessive LGMD is known as LGMD2 and has 10 subtypes (LGMDA-J). (For more information on this disorder, choose “limb-girdle muscular dystrophy” as your search term in the Rare Disease Database.)

Spinal muscular atrophy (SMA) that is caused by a deletion of the SMN gene on chromosome 5 is an inherited progressive neuromuscular disorder characterized by degeneration of groups of nerve cells (lower motor neurons) within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord (anterior horn cells). Motor neurons are nerve cells that transmit nerve impulses from the spinal cord or brain (central nervous system) to muscle or glandular tissue. Typical symptoms are a slowly progressive muscle weakness and muscle wasting (atrophy). Affected individuals have poor muscle tone, muscle weakness on both sides of the body without, or with minimal, involvement of the face muscles, twitching tongue and a lack of deep tendon reflexes. SMA is divided into subtypes based on age of onset of symptoms and maximum function achieved. (For more information on this disorder, choose “spinal muscular atrophy” as your search term in the Rare Disease Database.)


A diagnosis of DMD is made based upon a thorough clinical evaluation, a detailed patient history, and a variety of specialized tests including molecular genetic tests. If the genetic tests are not informative, surgical removal and microscopic examination (biopsy) of affected muscle tissue that may reveal characteristic changes to muscle fibers. Specialized blood tests (e.g. creatine kinase) that evaluate the presence and levels of certain proteins in muscle (immunohistochemistry) are also used.

Molecular genetic tests involve the examination of deoxyribonucleic acid (DNA) to identify specific a genetic mutation including deletions, duplications or single point mutations. Samples of blood or muscles cells may be tested. These techniques can also be used to diagnosis DMD before birth (prenatally).

Blood tests may reveal elevated levels of the creatine kinase (CK), an enzyme that is found in abnormally high levels when muscle is damaged. The detection of elevated CK levels (usually in the thousands or ten thousands range) can confirm that muscle is damaged or inflamed, but cannot confirm a diagnosis of DMD.

In some cases, a specialized test can be performed on muscle biopsy samples that can determine the presence and levels of specific proteins within cells. Various techniques such as immunostaining, immunofluorescence or Western blot (immunoblot) can be used. These tests involve the use of certain antibodies that react to certain proteins such as dystrophin. Tissue samples from muscle biopsies are exposed to these antibodies and the results can determine whether a specific muscle protein is present in the cells and in what quantity or what size.

Standard Therapies

No curative treatment exists for DMD. Treatments are aimed at the specific symptoms present in each individual. Treatment options should include physical therapy and active and passive exercise to build muscle strength and prevent contractures. Surgery may be recommended in some patients to treat contractures or scoliosis. Braces may be used to prevent the development of contractures. The use of mechanical aids (e.g., canes, braces, and wheelchairs) may become necessary to aid walking (ambulation).

Corticosteroids are used as standard of care to treat individuals with DMD. These drugs slow the progression of muscle weakness in affected individuals and delay the loss of ambulation by 2-3 years. Two common corticosteroid drugs used to treat individuals with DMD are prednisone and deflazacort (which is not available in the United States).

In 2016, Exondys 51 (eteplirsen) injection was FDA approved to treat DMD and is the first drug approved for this condition. Exondys 51 is specifically indicated for patients who have a confirmed mutation of the dystrophin gene amenable to exon 51 skipping, which affects about 13 percent of the population with DMD.

In 2017, Emflaza (deflazacort) was FDA approved to treat patients age 5 years and older with DMD.

In 2019 and 2020 respectively, the FDA approved Vyondys 53 (golodirsen) and Viltepso (viltolarsen) to treat patients with DMD who have a confirmed mutation of the dystrophin gene that is amenable to exon 53 skipping, which affects about 8 percent of patients with DMD.

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Most recently, in 2021, the FDA approved Amondys 45 (casimersen) to treat patients with DMD who have a confirmed mutation of the DMD gene that is amenable to exon 45 skipping. This mutation occurs in approximately 8 percent of patients with DMD. Amondys 45 is the first FDA-approved targeted treatment for patients with this type of mutation.

Clinical Testing and Work-Up
Children diagnosed with DMD should be monitored regularly for potential heart involvement. In some individuals, severe respiratory distress may necessitate the use of ventilator to assist breathing.

Genetic counseling may be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [emailprotected]

Some current clinical trials also are posted on the following page on the NORD website:

For information about clinical trials sponsored by private sources, contact:

For information about clinical trials conducted in Europe, contact:

Contact for additional information about Duchenne muscular dystrophy:
Gyula Acsadi, MD, PhD
Professor of Pediatrics
University of Connecticut, School of Medicine
Chief of Neurology Division
Connecticut Children’s Medical Center
282 Washington Street
Hartford, CT. 06106
Phone: 860-837-7500
Fax: 860-837-7550

NORD Member Organizations

  • Child Neurology Foundation
  • CureDuchenne
    • 1400 Quail Street, Suite 110
    • Newport Beach, CA 92660 USA
    • Phone: (949) 872-2552
    • Email: [emailprotected]
    • Website: http://www.CureDuchenne.org
  • Muscular Dystrophy Association
    • 161 N. Clark
    • Suite 3550
    • Chicago, IL 60601 USA
    • Phone: (520) 529-2000
    • Toll-free: (800) 572-1717
    • Email: [emailprotected]
    • Website: http://www.mda.org/
  • Parent Project Muscular Dystrophy
    • 401 Hackensack Avenue, 9th Floor
    • Hackensack, NJ 07601 USA
    • Phone: (201) 944-9985
    • Toll-free: (800) 714-5437
    • Email: [emailprotected]
    • Website: http://www.parentprojectmd.org

Other Organizations

  • DuchenneConnect
    • Emory University, Department of Human Genetics
    • 2165 N. Decatur Road
    • Atlanta, GA 30033
    • Phone: (404) 778-0553
    • Email: [emailprotected]
    • Website: http://www.duchenneconnect.org
  • European Alliance of Neuromuscular Disorders Associations
    • Linhartova 1
    • SI-1000 Ljubljana
    • Slovenia, GAR 04 Malta
    • Phone: 386014720500
    • Email: [emailprotected]
    • Website: http://www.eamda.eu/
  • Genetic and Rare Diseases (GARD) Information Center
  • Let Them Hear Foundation
    • 1900 University Avenue, Suite 101
    • East Palo Alto, CA 94303
    • Phone: (650) 462-3174
    • Email: [emailprotected]
    • Website: http://www.letthemhear.org
  • March of Dimes
  • Medical Home Portal
  • Muscular Dystrophy Association of Kosovo
    • Str"Ardian Krasnici N:6/22
    • Prishtina, 10000 Republic of Kosovo
    • Phone: 38138247721
    • Email: [emailprotected]
  • Muscular Dystrophy Campaign
  • Muscular Dystrophy Canada
    • 2345 Yonge Street Suite 900
    • Toronto
    • Ontario, M4P 2E5 Canada
    • Phone: (416) 488-0030
    • Toll-free: 8668
    • Email: [emailprotected]
    • Website: http://www.muscle.ca
  • New Horizons Un-Limited, Inc.
    • 811 East Wisconsin Ave
    • P.O. Box 510034
    • Milwaukee, WI 53203 USA
    • Phone: (414) 299-0124
    • Email: [emailprotected]
    • Website: http://www.new-horizons.org
  • NIH/National Institute of Neurological Disorders and Stroke
  • Society for Muscular Dystrophy Information International
    • P.O. Box 7490
    • Nova Scotia, B4V 2X6 Canada
    • Phone: (902) 685-3961


Behrman RE, Kliegman RM, Jenson HB,eds. Nelson Textbook of Pediatrics. 17th ed. Philadelphia, PA: Elsevier Saunders; 2005:2060-9.

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Acsadi G. Duchenne Muscular Dystrophy. NORD Guide to Rare Disorders. Philadelphia, PA: Lippincott Williams & Wilkins: 2003:623.


Foster K, Foster H, Dickson JG. Gene therapy progress and prospects: Duchenne muscular dystrophy. Gene Ther. 2006;13:1677-85.

Flanigan KM, von Niederhausern A, Dunn DM, et al., Rapid direct sequence analysis of the dystrophin gene. Am J Hum Genet. 2003;72:931-9.

Davies JE, Winokur TS, Aaron MF, et al., Cardiomyopathy in a carrier of Duchenne’s muscular dystrophy. J Heart Lung Transplant. 2001;20:781-4.

Fenichel GM, Griggs RC, Kissel J, et al., A randomized efficacy and safety trial of oxandrolone in the treatment of Duchenne muscular dystrophy. Neurology. 2001;56:1075-9.

Dubowitz V. The muscular dystrophies–clarity or chaos? N Engl J Med. 1997;336:650-651.

Boland BJ, Silbert PL, Groover RV, Wollan PC, Silverstein MD. Skeletal, cardiac, and smooth muscle failure in Duchenne muscular dystrophy. Pediat Neurol. 1996;14:7-12.

Bushby KMD, Appleton R, Anderson LVB, et al. Deletion status and intellectual impairment in Duchenne muscular dystrophy. Dev Med Child Neurol. 1995;37:260-269.

Barbujani G, Russo A, Danieli GA, et al. Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases. Hum Genet. 1990;84: 522-526.

Mendell JR, Moxley RT, Griggs RC, et al. Randomized, double-blind six-month trial of prednisone in Duchenne’s muscular dystrophy. N Engl J Med. 1989;320:1592-1597.

Darras BT, Miller DT, Urion DK. Dystrophinopathies. 2000 Sep 5 [Updated 2014 Nov 26]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1119/ Accessed June 21, 2016.

Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Muscular Dystrophy, Duchenne Type; DMD. Entry No: 310200. Last Update 6/06/2016. Available at: http://omim.org/entry/310200 Accessed June 21, 2016.

Years Published

1985, 1988, 1989, 1992, 1994, 1997, 1998, 1999, 2000, 2007, 2012, 2016

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Is Duchenne muscular dystrophy a rare disease? ›

Duchenne muscular dystrophy, one of the various forms of muscular dystrophy, is a rare genetic disease that affects boys almost exclusively and causes progressive weakness. Patients typically lose the ability to walk when they reach 8 to 12 years of age, and die as a result of respiratory or cardiac failure.

What is the rarest type of muscular dystrophy? ›

Fukuyama type congenital muscular dystrophy (FCMD) is one of several forms of a rare type of muscular dystrophy known as congenital muscular dystrophy. It is inherited as an autosomal recessive trait. Symptoms of this disorder are apparent at birth and progress slowly.

Is muscular dystrophy considered a rare disease? ›

Muscular dystrophies are rare, with little data on how many people are affected. The Centers for Disease Control and Prevention (CDC) is working to estimate the number of people with each major kind of muscular dystrophy in the United States.

Is there a cure coming soon for Duchenne muscular dystrophy? ›

Patients with DMD typically lose their ability to walk in their teenage years and develop heart and lung complications as they age. Treatments for DMD are limited and there is no known cure.

Can you survive Duchenne muscular dystrophy? ›

Duchenne MD – one of the most common and severe forms, it usually affects boys in early childhood; people with the condition will usually only live into their 20s or 30s.

What is the average lifespan of someone with Duchenne muscular dystrophy? ›

Until recently, children with Duchenne muscular dystrophy (DMD) did not often live beyond their teens. However, improvements in cardiac and respiratory care mean that life expectancy is increasing, with many DMD patients reaching their 30s, and some living into their 40s and 50s.

Is muscular dystrophy inherited from the mother or father? ›

In most cases, muscular dystrophy (MD) runs in families. It usually develops after inheriting a faulty gene from one or both parents. MD is caused by mutations (alterations) in the genes responsible for healthy muscle structure and function.

Which parent carries the muscular dystrophy gene? ›

Duchenne muscular dystrophy is inherited in an X-linked recessive pattern. Males have only one copy of the X chromosome from their mother and one copy of the Y chromosome from their father. If their X chromosome has a DMD gene mutation, they will have Duchenne muscular dystrophy.

Does Duchenne muscular dystrophy affect the brain? ›

However, dystrophin is also expressed in neurons within specific brain regions, including the hippocampus, a structure associated with learning and memory formation. Linked to this, a subset of boys with DMD exhibit nonprogressing cognitive dysfunction, with deficits in verbal, short-term, and working memory.

What are 3 types of muscular dystrophy? ›

Types of Muscular Dystrophy
  • Duchenne Muscular Dystrophy. ...
  • Becker Muscular Dystrophy. ...
  • Congenital Muscular Dystrophy. ...
  • Myotonic Muscular Dystrophy. ...
  • Limb-Girdle Muscular Dystrophy. ...
  • Facioscapulohumeral Muscular Dystrophy. ...
  • Emery–Dreifuss Muscular Dystrophy. ...
  • Distal Muscular Dystrophy.

Does muscular dystrophy affect the brain? ›

Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.

What causes death in people with Duchenne muscular dystrophy? ›

The two most common causes of death in DMD are respiratory and cardiac failure [9,10,11].

Does walking help muscular dystrophy? ›

Conclusions: Muscular exercise did not improve muscle strength and was associated with modest improvements in endurance during walking in patients with facio-scapulo-humeral and myotonic dystrophy.

What famous person has Duchenne muscular dystrophy? ›

Darius Weems was diagnosed when he was just 5 years old. Part 1: Suffering from Duchenne Muscular Dystrophy, Weems' trip became "Darius Goes West" doc. Nov. 22, 2012— -- Darius Weems is on a mission, but even though he is only 23 years old, it's a race against time.

Can you beat muscular dystrophy? ›

There is no cure. One of the most intense and aggressive forms of muscular dystrophy is Duchenne Muscular Dystrophy (DMD). Muscle loss and weakness is caused by alterations in a protein called dystrophin, which helps keep muscle cells whole.

What is the most common cause of death resulting from muscular dystrophy? ›

The most common cause of death is heart failure from cardiomyopathy. Some patients are found to have the genetic abnormalities of the dystrophin gene, but, clinically, have symptoms between those of Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD).

How old is the oldest person with muscular dystrophy? ›

The oldest DMD patient he knows is a 54-year-old man in the Netherlands, who had two brothers with Duchenne; one died at 15, the other at 41. “I know quite a few older people with Duchenne who have all sorts of different mutations,” Rey-Hastie said.

Does Duchenne muscular dystrophy qualify for disability? ›

If you are suffering from the effects of Muscular dystrophy (MD) you may qualify for disability benefits. The Social Security Administration recognizes muscular dystrophy as an impairment in its Blue Book under Section 11.

Does muscular dystrophy get worse with age? ›

How muscular dystrophy affects you or your child depends on the kind. Most people's condition will get worse over time, and some people may lose the ability to walk, talk, or care for themselves. But that doesn't happen to everyone. Other people can live for many years with mild symptoms.

What are usually the first signs of muscular dystrophy? ›

  • Frequent falls.
  • Difficulty rising from a lying or sitting position.
  • Trouble running and jumping.
  • Waddling gait.
  • Walking on the toes.
  • Large calf muscles.
  • Muscle pain and stiffness.
  • Learning disabilities.
11 Feb 2022

What part of the body does Duchenne muscular dystrophy affect? ›

Disease at a Glance

Duchenne muscular dystrophy (DMD) affects the muscles, leading to muscle wasting that gets worse over time. DMD occurs primarily in males, though in rare cases may affect females. The symptoms of DMD include progressive weakness and loss (atrophy) of both skeletal and heart muscle.

How can a boy get DMD if his mother is not a carrier? ›

Approximately 30% (⅓ or 1 in 3) of children born with Duchenne have a genetic change that started new in them and was not inherited from their mother. This is called a “spontaneous mutation” or a “de novo” mutation. The mother of a child with a spontaneous mutation is not a carrier.

Can males with DMD reproduce? ›

Males with DMD rarely, if ever, reproduce. The dystrophin gene has one of the highest known mutation rates in humans - presumably because of its large size. Deletions of part or all of the gene account for two-thirds of all mutations.

Can someone with muscular dystrophy have a baby? ›

This special MDA report takes a look at the issues that arise for expectant mothers with muscle disease and finds that, with proper care and planning, these women are usually — although not always — able to have successful pregnancies and give birth to healthy children.

Can a female get Duchenne muscular dystrophy? ›

Duchenne muscular dystrophy usually affects males. However, females are also affected in rare instances. Approximately 8% of female Duchenne muscular dystrophy (DMD) carriers are manifesting carriers and have muscle weakness to some extent.

When do the first symptoms of Duchenne muscular dystrophy appear? ›

It usually starts when a child is between ages 2 and 5. Symptoms of Duchenne muscular dystrophy include: Muscle weakness that begins in the hips, pelvis, and legs. Difficulty standing.

What race is muscular dystrophy most common in? ›

Conclusion: Since DMD is the primary cause of deaths in young males with MD, mortality rates are a reasonable proxy for the relative difference in racial prevalence. It appears that DMD is significantly more common in white males than in males of other races.

Is Duchenne muscular dystrophy painful? ›

The muscle problems can cause cramps at times, but in general, DMD isn't painful. Your child will still have control of their bladder and bowels. Although some children with the disorder have learning and behavior problems, DMD doesn't affect your child's intelligence.

What vitamins help with muscular dystrophy? ›

A multivitamin daily: containing the antioxidant vitamins A, C, E, the B-vitamins and trace minerals, such as magnesium, calcium, zinc, and selenium. Calcium and vitamin D supplement: 1 to 2 tablets daily, for support of muscle and skeletal weakness.

What is a major complication of Duchenne muscular dystrophy? ›

By the late teens, DMD may also be characterized by additional potentially life-threatening complications including weakness and deterioration of the heart muscle (cardiomyopathy). Cardiomyopathy can result in impairment in the ability of the heart to pump blood, irregular heartbeats (arrhythmias), and heart failure.

How painful is muscular dystrophy? ›

Chronic pain is something that many people, including many people with muscular dystrophy (MD), face on a day-to-day basis. In fact, preliminary results of our recent survey of people with MD show that 249 out of 321 people (78%) reported at least some daily pain.

What organs does muscular dystrophy affect? ›

Many individuals eventually lose the ability to walk. Some types of MD also affect the heart, gastrointestinal system, endocrine glands, spine, eyes, brain, and other organs. Respiratory and cardiac diseases may occur, and some people may develop a swallowing disorder.

What can be mistaken for muscular dystrophy? ›

The diseases most frequently mistaken for muscular dystrophy were polymyositis and the syndrome of "benign hypotonia." Polymyositis, with its protean manifestations and variable course, may mimic all of the forms of muscular dystrophy so closely that differentiation becomes especially difficult.

Can people with muscular dystrophy drive a car? ›

Some people will require hand controls, which are a mechanical adaptation to the vehicle, and others can use an electronic computer-based joystick or an electronic steering wheel,” says Jenny Nordine, a registered and licensed occupational therapist and CDRS with Driving to Independence in Tempe, Ariz.

Does Duchenne muscular dystrophy cause mental retardation? ›

Although most affected boys are not intellectually disabled, the risk of cognitive impairment is increased in DMD patients. Therefore, up to 30.0% of patients have intellectual disability with a FSIQ of less than 70, including around 3.0% of them with severe impairment and FSIQ of less than 50 [2,3].

What does muscular dystrophy stop you from doing? ›

Muscular dystrophy refers to a group of more than 30 inherited (genetic) diseases that cause muscle weakness. These conditions are a type of myopathy, a disease of the skeletal muscles. Over time, muscles shrink and become weaker, affecting your ability to walk and perform daily activities like brushing your teeth.

Can muscular dystrophy be caused by stress? ›

Our data show that stress induces muscle degeneration and accelerates age-dependent muscular dystrophy.

Does Duchenne affect speech? ›

In patients with Duchenne muscular dystrophy (DMD), speech problems may precede muscle weakness. Some of the speech problems experienced by patients with DMD include late onset of speech, problems with finding words, and non-fluent speech.

What foods help muscular dystrophy? ›

Food rich in calcium and vitamin D can help muscle and bone health. Calcium-rich food includes dairy products like milk, cheese, yogurt, etc., leafy green vegetables such as broccoli and spinach, calcium-added food such as orange juice and cereals, and fish such as sardines and salmon.

Does cold weather affect muscular dystrophy? ›

Winter weather should not directly affect muscular dystrophies. However, the limitations imposed by muscle weakness of any origin are magnified during the conditions of winter weather including the cold. These problems will resolve once these conditions change as do the seasons.

How do you slow down muscular dystrophy? ›

Medications. Your doctor might recommend: Corticosteroids, such as prednisone and deflazacort (Emflaza), which can help muscle strength and delay the progression of certain types of muscular dystrophy.

What is the most severe muscular dystrophy? ›

Duchenne MD (DMD)

DMD is the most common and severe form of MD among children, and it accounts for approximately half of MD cases. DMD occurs mostly in boys, usually between 3 and 5 years of age, and progresses rapidly. Most people with DMD are unable to walk by age 12 and may eventually need a respirator to breathe.

Can stem cells cure Duchenne muscular dystrophy? ›

Stem cell based therapies for the treatment of DMD can proceed via two strategies. The first is autologous stem cell transfer involving cells from a patient with DMD that are genetically altered in vitro to restore dystrophin expression and are subsequently re-implanted [Mendell and Clarke, 2006].

What is the quality of life for someone with muscular dystrophy? ›

With proper treatment and therapy, a person with muscular dystrophy can still live a full life. However, it's important to acknowledge that the effects of the disease can have a negative impact on quality of life, so support should be provided in every way possible.

What type of disease is Duchenne muscular dystrophy? ›

Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of a protein called dystrophin that helps keep muscle cells intact. DMD is one of four conditions known as dystrophinopathies.

What percent of the population has Duchenne muscular dystrophy? ›

General Discussion. Duchenne muscular dystrophy (DMD) is a rare muscle disorder but it is one of the most frequent genetic conditions affecting approximately 1 in 3,500 male births worldwide.

Is Duchenne the most common muscular dystrophy? ›

Duchenne muscular dystrophy is the most common inherited neuromuscular disorder that affects all races and ethnicities. Affecting only males, it occurs in 1/3,600 live-born infant boys.

How common is muscular dystrophy? ›

As the disease progresses, it can affect a child's heart and lungs. DMD is the most common form of muscular dystrophy. It affects approximately six out of 100,000 children in North America and Europe.

Does Duchenne affect the brain? ›

However, dystrophin is also expressed in neurons within specific brain regions, including the hippocampus, a structure associated with learning and memory formation. Linked to this, a subset of boys with DMD exhibit nonprogressing cognitive dysfunction, with deficits in verbal, short-term, and working memory.

What are 3 signs of muscular dystrophy? ›

Signs and symptoms, which typically appear in early childhood, might include:
  • Frequent falls.
  • Difficulty rising from a lying or sitting position.
  • Trouble running and jumping.
  • Waddling gait.
  • Walking on the toes.
  • Large calf muscles.
  • Muscle pain and stiffness.
  • Learning disabilities.
11 Feb 2022

Why is Duchenne muscular dystrophy fatal? ›

Duchenne muscular dystrophy

It is caused by a lack of dystrophin, a protein that is needed to hold muscles together. Without dystrophin, all skeletal muscles begin to deteriorate, leading to paralysis, heart and lung failure, and early death – on average in the sufferer's mid-twenties. Duchenne is 100% fatal.

Does muscular dystrophy come from the mother or father? ›

In most cases, muscular dystrophy (MD) runs in families. It usually develops after inheriting a faulty gene from one or both parents. MD is caused by mutations (alterations) in the genes responsible for healthy muscle structure and function.

How does muscular dystrophy affect the brain? ›

The molecular missteps that disrupt brain function in the most common form of adult-onset muscular dystrophy have been revealed in a new study. Myotonic dystrophy is marked by progressive muscle wasting and weakness, as well as sleepiness, memory problems, and mental retardation.

Can females get Duchenne muscular dystrophy? ›

Duchenne muscular dystrophy is widely considered a condition that affects boys and men. This genetic disease, which causes progressive loss of muscle function, is in fact seen far more often in boys than in girls — but girls and women aren't completely excluded from getting it.

At what age does muscular dystrophy start? ›

Muscular dystrophy is usually diagnosed in children between 3 and 6 years of age. Early signs of the illness include a delay in walking, difficulty rising from a sitting or lying position, and frequent falling, with weakness typically affecting the shoulder and pelvic muscle as one of the initial symptoms.

What country is muscular dystrophy most common? ›

The global prevalence of muscular dystrophy was estimated at 3.6 per 100,000 people (95 CI 2.8–4.5 per 100,000 people), the largest prevalence in the Americans at 5.1 per 100,000 people (95 CI 3.4–7.8 per 100,000 people).

What part of the body does muscular dystrophy affect? ›

Muscles around the eyes and mouth are often affected first, followed by weakness around the shoulders, chest, and upper arms. A particular pattern of muscle wasting causes the shoulders to appear to be slanted and the shoulder blades to appear winged. Muscles in the lower extremities may also become weakened.


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