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DMD was first described by the French neurologist Guillaume Benjamin Amand Duchenne in the s, but until the s, little was known about the cause of any kind of muscular dystrophy.

In , MDA-supported researchers identified a particular gene on the X chromosome that, when flawed mutated , leads to DMD.

Lack of the dystrophin protein in muscle cells causes them to be fragile and easily damaged. DMD has an X-linked recessive inheritance pattern and is passed on by the mother, who is referred to as a carrier.

DMD carriers are females who have a normal dystrophin gene on one X chromosome and an abnormal dystrophin gene on the other X chromosome. Most carriers of DMD do not themselves have signs and symptoms of the disease, but a minority do.

Symptoms can range from mild skeletal muscle weakness or cardiac involvement to severe weakness or cardiac effects and can begin in childhood or adulthood.

Until relatively recently, boys with DMD usually did not survive much beyond their teen years. Thanks to advances in cardiac and respiratory care, life expectancy is increasing and many young adults with DMD attend college, have careers, get married, and have children.

Survival into the early 30s is becoming more common than before. Human clinical trials are underway for some of these strategies.

On Sept. Food and Drug Administration FDA granted accelerated approval to eteplirsen brand name Exondys 51 as the first disease-modifying drug for DMD.

For more, see Top 5 FAQs: Eteplirsen Exondys 51 for DMD Treatment. On Feb. For more, see FDA Approves Emflaza for Treatment of Duchenne Muscular Dystrophy.

For stories of families living with DMD, see our DMD stories on Strongly, the MDA blog. Privacy Policy Terms of Use State Fundraising Notices.

Skip to main content. Search MDA. Search Donate. Duchenne Muscular Dystrophy DMD. What causes DMD? What is the life expectancy in DMD?

What is the status of DMD research? References Understanding Neuromuscular Disease Care. IQVIA Institute. Parsippany, NJ. February Developmental Medicine and Child Neurology.

Brazilian Journal of Physical Therapy. Scientific Reports. Bibcode : NatSR Archived from the original on May 2, Muscular Dystrophy Association. Retrieved July 6, Current Drug Metabolism.

January The Lancet. Part 2. Correlations within individual patients". Journal of Medical Genetics.

American Journal of Human Genetics. Journal of Pregnancy. Drug Safety and Availability. US FDA. November Quality of Life Research.

The Cochrane Database of Systematic Reviews. Circulation: Cardiovascular Imaging. Nature Biotechnology. Retrieved 8 July European Medicines Agency EMA.

Retrieved 14 August Retrieved 18 June Food and Drug Administration FDA Press release. Archived from the original on 13 December Retrieved 12 December This article incorporates text from this source, which is in the public domain.

Food and Drug Administration FDA. Retrieved 22 January Retrieved 12 August March Lancet Neurol. April September Annals of Physical and Rehabilitation Medicine.

Sbornik Vedeckych Praci Lekarske Fakulty Karlovy Univerzity V Hradci Kralove. Physiological Reports. Austin Journal of Otolaryngology.

Centers for Disease Control and Prevention. Archived from the original on July 4, Retrieved August 24, DM in Italian. Unione Italiana Lotta alla Distrofia Muscolare.

Archived from the original on March 4, Acta Myologica. Archived from the original on August 5, Retrieved June 29, Current Opinion in Pharmacology.

Canadian Journal of Physiology and Pharmacology. Human Molecular Genetics. Journal of Child Neurology. September 19, Archived from the original on December 11, Bibcode : Natur.

Proceedings of the National Academy of Sciences of the United States of America. Bibcode : PNAS Molecular Pharmacology.

Molecular Therapy. Science Advances. Bibcode : SciA Bibcode : Sci The New York Times. Archived from the original on 2 January Retrieved 1 January Archives of Neurology.

ICD - 10 : G MedlinePlus : Patient UK : Duchenne muscular dystrophy Orphanet : Muscular dystrophy. Congenital Dystrophinopathy Becker's Duchenne Distal Emery-Dreifuss Facioscapulohumeral Limb-girdle muscular dystrophy Calpainopathy Myotonic Oculopharyngeal.

Muscular Dystrophy Association USA Muscular Dystrophy Canada Myotonic Dystrophy Foundation Muskelsvindfonden Denmark. Stamulumab MYO X-linked disorders.

X-linked recessive. Chronic granulomatous disease CYBB Wiskott—Aldrich syndrome X-linked severe combined immunodeficiency X-linked agammaglobulinemia Hyper-IgM syndrome type 1 IPEX X-linked lymphoproliferative disease Properdin deficiency.

Haemophilia A Haemophilia B X-linked sideroblastic anemia. X-linked intellectual disability : Coffin—Lowry syndrome MASA syndrome Alpha-thalassemia mental retardation syndrome Siderius X-linked mental retardation syndrome Eye disorders: Color blindness red and green, but not blue Ocular albinism 1 Norrie disease Choroideremia Other: Charcot—Marie—Tooth disease CMTX Pelizaeus—Merzbacher disease SMAX2.

Dyskeratosis congenita Hypohidrotic ectodermal dysplasia EDA X-linked ichthyosis X-linked endothelial corneal dystrophy. Alport syndrome Dent's disease X-linked nephrogenic diabetes insipidus.

AMELX Amelogenesis imperfecta. X-linked dominant. X-linked hypophosphatemia Focal dermal hypoplasia Fragile X syndrome Aicardi syndrome Incontinentia pigmenti Rett syndrome CHILD syndrome Lujan—Fryns syndrome Orofaciodigital syndrome 1 Craniofrontonasal dysplasia.

Diseases of muscle , neuromuscular junction , and neuromuscular disease. Limb-girdle muscular dystrophy 1 Oculopharyngeal Facioscapulohumeral Myotonic Distal most.

Calpainopathy Limb-girdle muscular dystrophy 2 Congenital Fukuyama Ullrich Walker—Warburg. Hypokalemic Thyrotoxic Hyperkalemic.

Central core disease. MELAS MERRF KSS PEO. Inflammatory myopathy Congenital myopathy. Categories : Muscular dystrophy X-linked recessive disorders.

Hidden categories: CS1 maint: multiple names: authors list CS1: long volume value CS1 errors: missing periodical CS1 Italian-language sources it Articles with short description Short description is different from Wikidata Articles needing additional medical references from March All articles needing additional references Articles requiring reliable medical sources All articles with unsourced statements Articles with unsourced statements from May Articles with unsourced statements from August Articles with unsourced statements from May Articles with unsourced statements from January Articles with unsourced statements from May Wikipedia articles in need of updating from August All Wikipedia articles in need of updating Commons category link from Wikidata Articles with Curlie links Wikipedia medicine articles ready to translate.

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What links here Related changes Upload file Special pages Permanent link Page information Cite this page Wikidata item. Download as PDF Printable version.

Wikimedia Commons. Microscopic image of the calf muscle from a person with Duchenne muscular dystrophy. Cross section of muscle shows extensive replacement of muscle fibers by fat cells.

Medical genetics , pediatrics. Muscle weakness , trouble standing up, scoliosis [1] [2]. Around age 4 [1]. Genetic X-linked recessive [2].

Genetic testing [2]. Physical therapy , braces , surgery, assisted ventilation [1] [2]. Average life expectancy 26 [3].

Wikimedia Commons has media related to Duchenne muscular dystrophy. X-linked recessive Immune Chronic granulomatous disease CYBB Wiskott—Aldrich syndrome X-linked severe combined immunodeficiency X-linked agammaglobulinemia Hyper-IgM syndrome type 1 IPEX X-linked lymphoproliferative disease Properdin deficiency.

X-linked dominant X-linked hypophosphatemia Focal dermal hypoplasia Fragile X syndrome Aicardi syndrome Incontinentia pigmenti Rett syndrome CHILD syndrome Lujan—Fryns syndrome Orofaciodigital syndrome 1 Craniofrontonasal dysplasia.

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