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Encyclopedia > Duchenne muscular dystrophy
Duchenne muscular dystrophy
Classification and external resources
ICD-10 G71.0
ICD-9 359.1
OMIM 310200
DiseasesDB 3985
MedlinePlus 000705
MeSH D020388

Duchenne muscular dystrophy (DMD) is a form of muscular dystrophy that is characterized by decreasing muscle mass and progressive loss of muscle function in male children. This disorder is caused by a mutation in a specific gene within the X chromosome that provides instructions for the formation of the dystrophin protein, an important structural component of muscle tissue. Females can be carriers but generally do not experience the symptoms of the condition. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). ... // G00-G99 - Diseases of the nervous system (G00-G09) Inflammatory diseases of the central nervous system (G00) Bacterial meningitis, not elsewhere classified (G01) Meningitis in bacterial diseases classified elsewhere (G02) Meningitis in other infectious and parasitic diseases classified elsewhere (G03) Meningitis due to other and unspecified causes (G04) Encephalitis, myelitis... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... MedlinePlus (medlineplus. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... Dystrophin is a protein found in membranes surrounding individual muscle fibers, and its deficiency is one of the root causes of muscular dystrophy. ...


Symptoms usually appear in male children before age 6 and may occur as early as infancy. Progressive muscle weakness of the legs and pelvis associated with a loss of muscle mass is observed and eventually spreads to the arms, neck, and other areas. Early signs may include enlarged calf muscles (pseudohypertrophy), low strength and endurance levels, and difficulties in standing up and walking on stairs. As the condition progresses, muscle tissue experiences wasting and fibrosis, and is eventually replaced by fat and connective tissue. By age 10, braces may be required for walking, and most patients are confined to a wheelchair by age 12. Later symptoms include abnormal bone development that leads to skeletal deformities including curvature of the spine, progressive loss of movement leading eventually to complete paralysis, and increasing difficulty in breathing. Intellectual impairment may also be present but does not progress as the child ages. The condition is terminal and death usually occurs before the age of 30. Fibrosis is the formation or development of excess fibrous connective tissue in an organ or tissue as a reparative or reactive process, as opposed to a formation of fibrous tissue as a normal constituent of an organ or tissue. ...

Contents

Incidence/prevalence

Duchenne muscular dystrophy occurs in approximately 1 out of 4,000[1] people and can either be inherited or occur spontaneously. A family history of Duchenne muscular dystrophy is a significant risk factor.


Eponym

DMD is named after the French neurologist Guillaume Benjamin Amand Duchenne (1806-1875), who first described the disease in the 1860s. [2] Guillaume Benjamin Amand Duchenne (born September 17, 1806 in Boulogne; died September 15, 1875) was a French neurologist. ...


Patho-mechanism

Duchenne muscular dystrophy is caused by a mutation of the dystrophin gene whose protein product is responsible for the connection of muscle fibers to the extracellular matrix through a protein complex containing many subunits. The absence of dystrophin permits excess calcium to penetrate the sarcolemma (cell membrane). In a complex cascading process that involves several pathways and is not clearly understood, increased oxidative stress within the cell damages the sarcolemma, eventually results in the death of the cell. Muscle fibers undergo necrosis and are ultimately replaced with adipose and connective tissue. Dystrophin is a protein found in membranes surrounding individual muscle fibers, and its deficiency is one of the root causes of muscular dystrophy. ... For other uses, see Calcium (disambiguation). ... Muscle system The sarcolemma is the cell membrane of a muscle cell. ... Oxidative stress is a medical term for damage to animal or plant cells (and thereby the organs and tissues composed of those cells) caused by reactive oxygen species, which include (but are not limited to) superoxide, singlet oxygen, peroxynitrite or hydrogen peroxide. ... Muscle system The sarcolemma is the cell membrane of a muscle cell. ... Necrosis (in Greek Νεκρός = Dead) is the name given to accidental death of cells and living tissue. ... Adipose tissue is an anatomical term for loose connective tissue composed of energy in the form of fat, although it also cushions and insulates the body. ... Connective tissue is one of the four types of tissue in traditional classifications (the others being epithelial, muscle, and nervous tissue. ...


Symptoms

The main symptom of Duchenne muscular dystrophy is rapidly progressive muscle weakness associated with muscle wasting with the proximal muscles[citation needed] being first affected, especially the pelvis and calf muscles. Muscle weakness also occurs in the arms, neck, and other areas, but not as severely or as early as in the lower half of the body. Symptoms usually appear before age 6 and may appear as early as infancy. Generalized weakness and muscle wasting first affecting the muscles of the hips, pelvic area, thighs and shoulders. Calves are often enlarged. The other physical symptoms are: Muscle weakness (or lack of strength) is a direct term for the inability to exert force with ones muscles to the degree that would be expected given the individuals general physical fitness. ... It has been suggested that Muscle weakness and Dystrophy be merged into this article or section. ...

  • Awkward gait (patients tend to walk on their forefeet, because of an increased calve tonus)
  • Frequent falls
  • Fatigue
  • Difficulty with motor skills (running, hopping, jumping)
  • Increased Lumbar lordosis, leading to shortening of the hip-flexor muscles. This has an affect on overall posture and gait.
  • Muscle contractures of achilles tendon and hamstrings, impairs functionality because the muscle fibers shorten and fibrosis occurs in connective tissue
  • Progressive difficulty walking
  • Muscle fibre deformities
  • Pseudohypertrophy of tongue and calf muscles. The enlarged muscle tissue is eventually replaced by fat and connective tissue, hence the term pseudohypertrophy.
  • Higher risk of behavior and learning difficulties.
  • Eventual loss of ability to walk (usually by the age of 12)
  • Skeletal deformities (including scoliosis in some cases)

A motor skill is a skill that requires an organism to utilize their skeletal muscles effectively in a goal directed manner. ... Fibrosis is the formation or development of excess fibrous connective tissue in an organ or tissue as a reparative or reactive process, as opposed to a formation of fibrous tissue as a normal constituent of an organ or tissue. ... Connective tissue is one of the four types of tissue in traditional classifications (the others being epithelial, muscle, and nervous tissue. ...

Signs and tests

Muscle wasting begins in the legs and pelvis, then progresses to the muscles of the shoulders and neck, followed by loss of arm muscles and respiratory muscles. Calf muscle enlargement (pseudohypertrophy) is quite obvious. Cardiomyopathy may occur, but the development of congestive heart failure or arrhythmias (irregular heartbeats) is rare. Congestive heart failure (CHF), also called congestive cardiac failure (CCF) or just heart failure, is a condition that can result from any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body. ... A cardiac arrhythmia, also called cardiac dysrhythmia, is a disturbance in the regular rhythm of the heartbeat. ...

  • A positive Gower's sign reflects the more severe impairment of the lower extremities muscles. The child helps himself to get up with upper extremities: first by rising to stand on his arms and knees, and then "walking" his hands up his legs to stand upright.
  • Affected children usually tire more easily and have less overall strength than their peers.
  • Creatine kinase (CPK-MM) levels in the bloodstream are extremely high.
  • An electromyography (EMG) shows that weakness is caused by destruction of muscle tissue rather than by damage to nerves.
  • Genetic testing can reveal genetic errors in the Xp21 gene.
  • A muscle biopsy (immunohistochemistry or immunoblotting) or genetic test (blood test) confirms the absence of dystrophin, although improvements in genetic testing often make this unnecessary.

Gowers sign is seen in duchenne muscular dystrophy, where the child is unable to stand on its own, but need to support himself by his hands to get up. ... Creatine Kinase Creatine kinase (CK), also known as phosphocreatine kinase or creatine phosphokinase (CPK) is an enzyme (EC 2. ... Electromyography (EMG) is a technique for evaluating and recording physiologic properties of muscles at rest and while contracting. ... For other uses, see Nerve (disambiguation). ... Genetic testing allows the genetic diagnosis of vulnerabilities to inherited diseases, and can also be used to determine a persons ancestry. ... Brain biopsy A biopsy (in Greek: bios = life and opsy = look/appearance) is a medical test involving the removal of cells or tissues for examination. ... Immunohistochemistry or IHC refers to the process of localizing proteins in cells of a tissue section exploiting the principle of antibodies binding specifically to antigens in biological tissues. ... Picture of a western blot with 5 vertical lanes A western blot (a. ... Blood tests are laboratory tests done on blood to gain an appreciation of disease states and the function of organs. ... Dystrophin is a protein found in membranes surrounding individual muscle fibers, and its deficiency is one of the root causes of muscular dystrophy. ...

Diagnosis

CPK test

If a physician suspects DMD after examining the boy they will use a CPK (creatine phosphokinase) test to determine if the muscles are damaged. This test measures the amount of CPK in the blood. In DMD patients CPK leaks out of the muscle cell into the bloodstream, so a high level (nearly 50 to 100 times more) confirms that there is muscle damage. Affected individuals may have a value as high as 15,000 to 35,000iu/l (normal = 60iu/l). Creatine Kinase Creatine kinase (CK), also known as phosphocreatine kinase or creatine phosphokinase (CPK) is an enzyme (EC 2. ...


DNA test

The dystrophin gene is composed of 79 exons, and DNA testing and analysis can usually identify the specific type of mutation of the exon or exons that are affected. DNA testing confirms the diagnosis in most cases.[3] The exon portion of a DNA strand encodes a specific portion of a protein. ...


Muscle biopsy

If DNA testing fails to find the mutation, a muscle biopsy test may be performed. A small sample of muscle tissue is extracted and a dye is applied that reveals the presence of dystrophin. Complete absence of the protein indicates the condition.


Over the past several years DNA tests have been developed that detect more of the many mutations that cause the condition, and muscle biopsy is not required as often to confirm the presence of Duchenne's.


Prenatal tests

If one or both parents are 'carriers' of a particular condition there is a risk that their unborn child will be affected by that condition. 'Prenatal tests' are carried out during pregnancy, to try to find out if the fetus (unborn child) is affected. The tests are only available for some neuromuscular disorders. Different types of prenatal tests can be carried out after about 10 weeks of pregnancy. Chorion villus sampling (CVS) can be done at 10-12 weeks, and amniocentesis at about 14-16 weeks, while placental biopsy and foetal blood sampling can be done at about 18 weeks. Women and/or couples need to consider carefully which test to have and to discuss this with their genetic counselor. Earlier testing would allow early termination which would probably be less traumatic for the couple, but it carries a slightly higher risk of miscarriage than later testing (about 2%, as opposed to 0.5%).


Treatment

There is no known cure for Duchenne muscular dystrophy, although recent stem-cell research is showing promising vectors that may replace damaged muscle tissue. Treatment is generally aimed at control of symptoms to maximize the quality of life, and include the following.

  • Corticosteroids such as prednisone and deflazacort increase energy and strength and defer severity of some symptoms.
  • Mild, non-jarring physical activity such as swimming is encouraged. Inactivity (such as bed rest) can worsen the muscle disease.
  • Physical therapy is helpful to maintain muscle strength, flexibility, and function.
  • Orthopedic appliances (such as braces and wheelchairs) may improve mobility and the ability for self-care. Form-fitting removable leg braces that hold the ankle in place during sleep can defer the onset of contractures.
  • Appropriate respiratory support as the disease progresses is important

In physiology, corticosteroids are a class of steroid hormones that are produced in the adrenal cortex. ... Prednisone is a synthetic corticosteroid drug which is usually taken orally but can be delivered by intramuscular injection and can be used for a great number of different conditions. ... Deflazacort is a glucocorticoid. ... Bed rest is a doctors prescription to spend a longer period of time in bed. ... A contracture is a shortening of a muscle or tendon in the human body in response to stress exerted on that muscle or tendon. ...

Prognosis

Duchenne muscular dystrophy eventually affects all voluntary muscles and involves the heart and breathing muscles in later stages. Survival is rare beyond the early 30s,[4] although recent advancements in medicine are extending the lives of those afflicted. Death typically occurs from respiratory failure or heart disorders.


Physical Therapy

Physical therapists are concerned with enabling children to reach their maximum physical potential. Their aim is to:

  • minimize the development of contractures and deformity by developing a programme of stretches and exercises where appropriate
  • anticipate and minimize other secondary complications of a physical nature
  • monitor respiratory function and advise on techniques to assist with breathing exercises and methods of clearing secretions

Mechanical ventilatory/Respiration Assistance

Modern "volume ventilators/respirators," which deliver an adjustable volume (amount) of air to the person with each breath, are valuable in the treatment of people with muscular dystrophy related respiratory problems. Ventilator treatment usually (but not always) begins in the mid to late teens when the respiratory muscles begin to fail. A medical ventilator is a device designed to provide mechanical ventilation to a patient. ...


When the vital capacity has dropped below 40 percent of normal, a volume ventilator/respirator may be used during sleeping hours, a time when the person is most likely to be under ventilating ("hypoventilating"). Hypoventilation during sleep is determined by a thorough history of sleep disorder with an oximetry study and a capillary blood gas (See Pulmonary Function Testing). The ventilator may require an endotracheal or tracheotomy tube through which air is directly delivered, however, for some people delivery through a face mask is sufficient. In medicine, hypoventilation (also known as respiratory depression) occurs when ventilation is inadequate (hypo means below) to perform needed gas exchange. ... Spirometry, also known as Pulmonary Function Testing (PFT), is the measurement of lung function, specifically by measuring the volume and speed of air that can be inhaled and exhaled. ... Completed tracheotomy: 1 - Vocal cords 2 - Thyroid cartilage 3 - Cricoid cartilage 4 - Tracheal cartilages 5 - Balloon cuff A tracheotomy is a procedure performed by paramedics, emergency physicians and surgeons in order to secure an airway. ...


As the vital capacity declines to less than 30 percent of normal, a volume ventilator/respirator may also be needed during the day for more assistance. The person gradually will increase the amount of time using the ventilator/respirator during the day as needed. A tracheotomy tube may be used in the daytime and during sleep, however, delivery through a face mask may be sufficient. The machine can easily fit on a ventilator tray on the bottom or back of a power wheelchair with an external battery for portability.f


Researching a cure

Promising research is being conducted around the globe to find a cure or a therapy that is able to mitigate some of the effects of the disease. Finding a cure is made more complex by the number and variation of genetic mutations in the dystrophin gene that result in DMD.


In the area of stem cell research, a recent paper was published in Nature Cell Biology that describes the identification of pericyte-derived cells from human skeletal muscle. These cells have been shown to fulfill important criteria for consideration of therapeutic uses. That is, they are easily accessible in postnatal tissue, they are able to grow to a large enough number in vitro to provide enough cells for systemic treatment of a patient, they have been shown to differentiate into skeletal muscle, and, very important, they can reach skeletal muscle through a systemic route. This means that they can be injected arterially and cross through arterial walls into muscle, unlike therapeutic cell types used earlier such as muscle satellite cells which require the impractical task of intramuscular injection. These findings show potential for stem cell therapy of DMD. In this case a small biopsy of skeletal muscle from the patient would be collected, the pericyte-derived cells would be extracted and grown in culture, and then these cells would be injected into the blood stream where they could navigate into and differentiate into skeletal muscle. In vitro (Latin: within the glass) refers to the technique of performing a given experiment in a test tube, or, generally, in a controlled environment outside a living organism. ...


The research group of Kay Davies works on the upregulation of utrophin, a smaller but similar protein that is found in fetal humans, as a substitute for dystrophin. Kay Davies MA DPhil FRS is a human geneticist and Dr Lees Professor of Anatomy in the University of Oxford. ... Utrophin is a protein of the cytoskeleton. ... Dystrophin is a protein found in membranes surrounding individual muscle fibers, and its deficiency is one of the root causes of muscular dystrophy. ...


At the Généthon Institute in Evry near Paris under Olivier Danos and Luis García the U7 gene transfer technique is under development. This new technique is a combination of exon skipping and the transfer of a gene that instructs the muscle cells to continuously produce the antisense oligonucleotides (AONs) themselves so that they do not have to be injected repeatedly. The AONs are potential drugs which are able to modify the genetic information in such a way that the fast progressing Duchenne muscular dystrophy is converted into the much slower developing Becker muscular dystrophy. Early research into the effects of U7 Gene Transfer[5] have been very promising. Treated mice have gone on to show very little muscle weakness even after being stressed. Treated monkeys have retained the active AONs 6 years after injection, and treated dogs have developed 80% of the normal muscle mass within 2 months of treatment. First round tests in humans are due to begin soon, but given the need for multiple rounds of testing before a treatment can be released to the public, it will be at least a few years before this cure is widely available (if indeed these results are possible in humans). An exon is any region of DNA within a gene, that is transcribed to the final messenger RNA (mRNA) molecule, rather than being spliced out from the transcribed RNA molecule. ... Antisense molecules interact with complementary strands of nucleic acids, modifying expression of genes. ... Oligonucleotides are short sequences of nucleotides (RNA or DNA), typically with twenty or fewer bases. ...


Antisense techniques can also modify splicing of pre-mRNA, similarly converting Duchenne to Becker-like muscular dystrophy in animal models but without the need for insertion of DNA by virus. Because these techniques do not permanently modify the DNA, they are more accurately considered as potential treatments rather than cures. Especially promising for this application are Morpholino antisense oligos.[6][7][8] Morpholinos are commencing Phase 1 clinical trials in the EU.[9]An experiment in Leiden with an oligonucleotide has shown partial restoration(3-12% of normal) of dystrofin synthesis in locally injected muscle in human patients. Although this is an important finding it is not a practical form of treatment[10] . Segment of a Morpholino-RNA heteroduplex, 8-mer shown In molecular biology, a Morpholino is a kind of molecule used to modify gene expression. ...


More information on the new PTC124 trials, currently nearing the end of Phase II, is available at the MDA.org website. This potential treatment would address from 5 to 15 percent of DMD cases where the dystrophin protein cannot be completed due to an incorrect stop codon in the genetic sequence. The PTC124 treatment skips the improper "stop" instruction, allowing reading through of the remaining sequence and completion of the dystrophin protein assembly process. In recent mouse trials, PTC124 was found to repair damaged muscle tissues.[11][12] RNA codons. ...


Recent research shows losartan, a currently available drug used for treating hypertension, to be effective in halting the progress of the disease in mice that were genetically engineered to have Duchenne's.[13] Human trials are in planning. Losartan (rINN) (IPA: ) is an angiotensin II receptor antagonist drug used mainly to treat high blood pressure (hypertension). ...


Some parents of children with Duchenne's are noting reductions of symptomatic severity from a regimen of Protandim, a non-prescription nutritional supplement that increases levels of two specific antioxidant enzymes. Other parents report no benefit. Controlled clinical trials have not yet been conducted, and parent observations may have been influenced by confounding factors such as expectation bias, normal developmental progress, and the common practice of implementing additional nutritional supplements and/or corticosteroids concurrent with the Protandim. However, Protandim is promising on a theoretical level, in that it has the potential to modify the inflammatory/cell death cycle. DMD mouse-model trials of the therapy are in progress, and human trials are planned.[14][15]


Research from a group in France led by L. Ségalat has identified a number of drugs that are currently licenced for other applications as halting or reducing dramatically the advance of muscle degeneration in a worm model of DMD.[16] They are now using mouse models to confirm these findings, which so far are looking very promising, confirming the efficacy of these drugs. However, work in mice seems to be moving slowly. The main classes of drugs they identified where SSRI (ie antidepressants such as prozac) and muscle relaxants, such as those used by athletes after heavy training. There is conflicting evidence from animal models suggeseting that doing less exercise slows down the rate of degeneration of the muscle; therefore there is a possibility that both these drugs act somewhat as sedatives, although the reality seems to be that the worms and mice are more active overall, as they have less muscle damage and so can remain active for much longer.


Prevention

Genetic counseling is advised for people with a family history of the disorder. Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies performed during pregnancy.


Organizations specific to DMD

In addition to charities devoted to muscular dystrophies in general (such as MDA), these charities are devoted exclusively to DMD: Muscular Dystrophy Association (MDA) is a U.S. organization founded in 1950 which combats muscular dystrophy and diseases of the nervous system and muscular system in general by funding research, providing medical and community services, and educating health professionals and the general public. ...

  • United Parent Project Muscular Dystrophy: United Parent Projects MD is an international organisation that has been set up by parents and friends of boys with DMD.
  • Parent Project Muscular Dystrophy: Parent Project Muscular Dystrophy’s mission is to improve the treatment, quality of life and long-term outlook for all individuals affected by Duchenne muscular dystrophy (DMD) through research, advocacy, education and compassion.
  • Charley's Fund: an organisation whose mission is to fund research for cure or treatment for Duchenne. Charley's Fund invests money in translational research – research that focuses on moving science from the lab into human clinical trials.
  • JettFund: Currently, 25 teens are biking across America to raise funds for teens with DMD. The recent film Darius Goes West (2007) is a documentary of Darius Weems who suffers from DMD and is taken on a road trip by eleven friends to have MTV "pimp his ride".
  • CureDuchenne: is a non-profit organization that aggressively funds leading edge research for treatments and a cure for Duchenne muscular dystrophy.
  • Action Duchenne: exclusively funds research for a cure and promotes campaigns for better medical care for Duchenne and Becker Muscular Dystrophy.

Darius Goes West is a documentary by Logan Smalley. ... This article is about the television show. ...

References

  1. ^ Louise V. B. Anderson; Katharine M. D. Bushby (2001). Muscular Dystrophy: Methods and Protocols (Methods in Molecular Medicine). Totowa, NJ: Humana Press, 111. ISBN 0-89603-695-2. 
  2. ^ doctor/950 at Who Named It
  3. ^ University of Utah Muscular Dystrophy
  4. ^ Muscular Dystrophy Association
  5. ^ Rescue of Dystrophic Muscle Through U7 snRNA-Mediated Exon Skipping - Goyenvalle et al. 306 (5702): 1796 - Science
  6. ^ McClorey G, Moulton H, Iversen P, Fletcher S, Wilton S (2006). "Antisense oligonucleotide-induced exon skipping restores dystrophin expression in vitro in a canine model of DMD". Gene Ther 13 (19): 1373-1381. PMID 16724091. 
  7. ^ McClorey G, Fall A, Moulton H, Iversen P, Rasko J, Ryan M, Fletcher S, Wilton S (2006). "Induced dystrophin exon skipping in human muscle explants". Neuromuscul Disord 16 (9-10): 583-590. PMID 16919955. 
  8. ^ Fletcher S, Honeyman K, Fall AM, Harding PL, Johnsen RD, Steinhaus JP, Moulton HM, Iversen PL, Wilton SD (2007). "Morpholino Oligomer-Mediated Exon Skipping Averts the Onset of Dystrophic Pathology in the mdx Mouse". Mol Ther. [Epub ahead of print]. PMID 17579573. 
  9. ^ conducted by the MDEX consortium
  10. ^ van Deutekom JC, et al. Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med. 2007 Dec 27;357(26):2677-86.
  11. ^ MDA Research | Preliminary Results of DMD Clinical Trial Encouraging
  12. ^ http://www.parentprojectmd.org/site/DocServer/PTC124_PRESS_RELEASE.pdf?docID=1601
  13. ^ Common blood pressure drug treats muscular dystrophy in mice
  14. ^ News: LifeVantage Corporation Provides Further Information on Additional Studies Involving Protandim(R). Genetic Engineering & Biotechnology News - Biotechnology from Bench to Business
  15. ^ http://trialserve.com/publications/Protandim_DMD_Results.pdf
  16. ^ Carre-Pierrat M, Mariol MC, Chambonnier L, et al (2006). "Blocking of striated muscle degeneration by serotonin in C. elegans". J. Muscle Res. Cell. Motil. 27 (3-4): 253–8. doi:10.1007/s10974-006-9070-9. PMID 16791712. 

Who Named It is a Norwegian database of several thousand eponymous medical signs and the doctors associated with their identification. ... A digital object identifier (or DOI) is a standard for persistently identifying a piece of intellectual property on a digital network and associating it with related data, the metadata, in a structured extensible way. ...

External links

  • DuchenneConnect - Duchenne/Becker patient registry
  • Dystrophy.com - General information about dystrophy treatments, organizations and causes
  • CDC’s National Center on Birth Defects and Developmental Disabilities (previously listed below as "Duchenne/Becker Muscular Dystrophy, NCBDDD") at CDC
  • MUSCULAR DYSTROPHY Page on NCBI
  • Genes and Disease Page at NCBI
  • Muscular Dystrophies at the Open Directory Project
The Centers for Disease Control and Prevention (CDC) in Atlanta, Georgia, is recognized as the leading United States agency for protecting the public health and safety of people. ... National Center for Biotechnology Information logo The National Center for Biotechnology Information (NCBI) is part of the United States National Library of Medicine (NLM), a branch of the National Institutes of Health. ... National Center for Biotechnology Information logo The National Center for Biotechnology Information (NCBI) is part of the United States National Library of Medicine (NLM), a branch of the National Institutes of Health. ... The Open Directory Project (ODP), also known as dmoz (from , its original domain name), is a multilingual open content directory of World Wide Web links owned by Netscape that is constructed and maintained by a community of volunteer editors. ... Muscular dystrophy refers to a group of genetic, hereditary muscle diseases that cause progressive muscle weakness. ... It has been suggested that this article or section be merged into muscular dystrophy. ... Dystrophin is a protein found in membranes surrounding individual muscle fibers, and its deficiency is one of the root causes of muscular dystrophy. ... Beckers muscular dystrophy (also known as Benign pseudohypertrophic muscular dystrophy) is an X-linked recessive inherited disorder characterized by slowly progressive muscle weakness of the legs and pelvis. ... Distal muscular dystrophy (or distal myopathy) are a group of disorders characterized by onset in the hands or feet. ... Emery-Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement (skeletal muscles) and heart (cardiac) muscle. ... Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant form of muscular dystrophy that initially affects muscles of the face (facio), scapula (scapulo) and upper arms (humeral). ... Limb-girdle muscular distrophy or Erbs muscular dystrophy is a type of muscular dystrophy that includes Duchenne muscular dystrophy, Beckers muscular dystrophy, and a large number of rarer disorders. ... Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. ... Oculopharyngeal dystrophy (OPD), or oculopharyngeal muscular dystrophy, is a form of muscular dystrophy characterized in some stages by deformation of the eyelid, speech impediment, and difficulty swallowing due to dystrophia of the pharynx. ... Muscular Dystrophy Association (MDA) is a U.S. organization founded in 1950 which combats muscular dystrophy and diseases of the nervous system and muscular system in general by funding research, providing medical and community services, and educating health professionals and the general public. ... Muscular Dystrophy Canada (MDC) (French: Dystrophie musculaire Canada) is a Canadian organization, formed in 1954, that supports people with Muscular Dystrophy. ... The National Institute of Neurological Disorders and Stroke is a part of the U.S. National Institutes of Health. ... NIAMS, the United States National Institute of Arthritis and Musculoskeletal and Skin Diseases, is a division of the National Institutes of Health. ... The National Institutes of Health is an institution of the United States government which focuses on medical research. ... The Muscular Dystrophy Community Assistance Research and Education Amendments of 2001 (MD CARE Act, Pub. ... The Genetic Information Nondiscrimination Act (GINA) is designed to prohibit the improper use of genetic information in health insurance and employment. ... The Americans with Disabilities Act of 1990 (ADA) is the short title of United States Public Law 101-336, 104 Stat. ... The Jerry Lewis MDA Telethon is hosted by Jerry Lewis to raise money for the Muscular Dystrophy Association. ... Stamulumab (MYO-029) is an experimental myostatin inhibiting drug developed by Wyeth Pharmaceuticals for the treatment of muscular dystrophy. ...

  Results from FactBites:
 
MedlinePlus Medical Encyclopedia: Duchenne muscular dystrophy (885 words)
Duchenne muscular dystrophy is an inherited disorder characterized by rapidly progressive muscle weakness which starts in the legs and pelvis and later affects the whole body.
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy.
Duchenne muscular dystrophy is inherited in an X-linked recessive pattern.
DMD Fund - Duchenne Muscular Dystrophy Info (3668 words)
Muscular dystrophy is always a genetic disorder, which means that it always results from a gene defect.
Duchenne MD is typically diagnosed in boys between the ages of 3 and 7.
However once a child with Duchenne MD is born into a family, it is possible to offer prenatal diagnosis in future pregnancies, either for the mother or for other women in her family who may be at risk of being carriers of the damaged X-chromosome.
  More results at FactBites »

 
 

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