Duchenne Muscular Dystrophy (Concept Id: C0013264) - NCBI

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Create FileAdd to ClipboardAdd to Collections Duchenne muscular dystrophy(DMD)MedGen UID: 3925 •Concept ID: C0013264 •Disease or Syndrome

Synonyms:	DMD; MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE TYPE
SNOMED CT:	Duchenne muscular dystrophy (76670001); Pseudohypertrophic muscular dystrophy (76670001); Benign Duchenne muscular dystrophy (387732009); DMD - Duchenne muscular dystrophy (76670001)
Modes of inheritance:	X-linked recessive inheritanceMedGen UID: 375779 •Concept ID: C1845977 •Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record X-linked recessive inheritance (Orphanet)
Gene (location): Gene(s) directly associated with this condition or phenotype.	DMD (Xp21.2-21.1)
Monarch Initiative:	MONDO:0010679
OMIM®:	310200
Orphanet:	ORPHA98896

Definition The dystrophinopathies cover a spectrum of X-linked muscle disease ranging from mild to severe that includes Duchenne muscular dystrophy, Becker muscular dystrophy, and DMD-associated dilated cardiomyopathy (DCM). The mild end of the spectrum includes the phenotypes of asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria. The severe end of the spectrum includes progressive muscle diseases that are classified as Duchenne/Becker muscular dystrophy when skeletal muscle is primarily affected and as DMD-associated DCM when the heart is primarily affected. Duchenne muscular dystrophy (DMD) usually presents in early childhood with delayed motor milestones including delays in walking independently and standing up from a supine position. Proximal weakness causes a waddling gait and difficulty climbing stairs, running, jumping, and standing up from a squatting position. DMD is rapidly progressive, with affected children being wheelchair dependent by age 12 years. Cardiomyopathy occurs in almost all individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and progressive cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness. With improved diagnostic techniques, it has been recognized that the mild end of the spectrum includes men with onset of symptoms after age 30 years who remain ambulatory even into their 60s. Despite the milder skeletal muscle involvement, heart failure from DCM is a common cause of morbidity and the most common cause of death in BMD. Mean age of death is in the mid-40s. DMD-associated DCM is characterized by left ventricular dilatation and congestive heart failure. Females heterozygous for a DMD pathogenic variant are at increased risk for DCM. [from GeneReviews] Additional descriptions From OMIMDystrophin-associated muscular dystrophies range from the severe Duchenne muscular dystrophy (DMD) to the milder Becker muscular dystrophy (BMD; 300376). Mapping and molecular genetic studies showed that both are the result of mutations in the huge gene that encodes dystrophin, also symbolized DMD. Approximately two-thirds of the mutations in both forms are deletions of one or many exons in the dystrophin gene. Although there is no clear correlation found between the extent of the deletion and the severity of the disorder, DMD deletions usually result in frameshift. Boland et al. (1996) studied a retrospective cohort of 33 male patients born between 1953 and 1983. The mean age at DMD diagnosis was 4.6 years; wheelchair dependency had a median age of 10 years; cardiac muscle failure developed in 15% of patients with a median age of 21.5 years; smooth muscle dysfunction in the digestive or urinary tract occurred in 21% and 6% of the patients, respectively, at a median age of 15 years. In this cohort, death occurred at a median age of 17 years. The authors commented that the diagnosis of DMD is being made at an earlier age but survival has not changed.  http://www.omim.org/entry/310200From MedlinePlus GeneticsMuscular dystrophies are a group of genetic conditions characterized by progressive muscle weakness and wasting (atrophy). The Duchenne and Becker types of muscular dystrophy are two related conditions that primarily affect skeletal muscles, which are used for movement, and heart (cardiac) muscle. These forms of muscular dystrophy occur almost exclusively in males.Duchenne and Becker muscular dystrophies have similar signs and symptoms and are caused by different mutations in the same gene. The two conditions differ in their severity, age of onset, and rate of progression. In boys with Duchenne muscular dystrophy, muscle weakness tends to appear in early childhood and worsen rapidly. Affected children may have delayed motor skills, such as sitting, standing, and walking. They are usually wheelchair-dependent by adolescence. The signs and symptoms of Becker muscular dystrophy are usually milder and more varied. In most cases, muscle weakness becomes apparent later in childhood or in adolescence and worsens at a much slower rate.A related condition called X-linked dilated cardiomyopathy is a form of heart disease caused by mutations in the same gene as Duchenne and Becker muscular dystrophy, and it is sometimes classified as subclinical Becker muscular dystrophy. People with X-linked dilated cardiomyopathy typically do not have any skeletal muscle weakness or wasting, although they may have subtle changes in their skeletal muscle cells that are detectable through laboratory testing.Both the Duchenne and Becker forms of muscular dystrophy are associated with a heart condition called cardiomyopathy. This form of heart disease weakens the cardiac muscle, preventing the heart from pumping blood efficiently. In both Duchenne and Becker muscular dystrophy, cardiomyopathy typically begins in adolescence. Later, the heart muscle becomes enlarged, and the heart problems develop into a condition known as dilated cardiomyopathy. Signs and symptoms of dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath, extreme tiredness (fatigue), and swelling of the legs and feet. These heart problems worsen rapidly and become life-threatening in most cases. Males with Duchenne muscular dystrophy typically live into their twenties, while males with Becker muscular dystrophy can survive into their forties or beyond.  https://medlineplus.gov/genetics/condition/duchenne-and-becker-muscular-dystrophy Clinical features From HPO Knee flexion contractureMedGen UID: 98042 •Concept ID: C0409355 •Finding A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively. See: Feature record | Search on this feature Calf muscle pseudohypertrophyMedGen UID: 374276 •Concept ID: C1839666 •Disease or Syndrome Enlargement of the muscles of the calf due to their replacement by connective tissue or fat. See: Feature record | Search on this feature Cardiac arrhythmiaMedGen UID: 2039 •Concept ID: C0003811 •Finding Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. See: Feature record | Search on this feature Primary dilated cardiomyopathyMedGen UID: 2880 •Concept ID: C0007193 •Disease or Syndrome Dilated cardiomyopathy is a form of heart disease in which the heart (cardiac) muscle becomes thin and enlarged (dilated). The dilation, which typically starts in the lower left chamber of the heart (left ventricle), makes it harder for the heart to pump blood to the rest of the body. \n\nDilated cardiomyopathy is called nonsyndromic dilated cardiomyopathy when it cannot be explained by other causes, such as a heart attack or damage to the valves of the heart, and is not associated with signs and symptoms that affect other parts of the body.  \n\nOver time, people with nonsyndromic dilated cardiomyopathy may develop life-threatening complications, which can include abnormal heart rhythms (arrhythmias) and heart failure. Although uncommon, sudden death can occur in people with nonsyndromic dilated cardiomyopathy, even if they have no other symptoms of the condition.\n\nThe signs and symptoms of nonsyndromic dilated cardiomyopathy vary among affected individuals, even among members of the same family. The signs and symptoms typically begin in mid-adulthood, but they can occur at any time from infancy to late adulthood. Affected individuals may have a sensation of fluttering or pounding in the chest (palpitations); shortness of breath, especially when lying down or during physical activity; fatigue; and swelling of the legs and feet. Affected individuals may also have episodes of dizziness or fainting (syncope). \n\n See: Feature record | Search on this feature Congestive heart failureMedGen UID: 9169 •Concept ID: C0018802 •Disease or Syndrome The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. See: Feature record | Search on this feature Abnormal EKGMedGen UID: 105507 •Concept ID: C0522055 •Finding Abnormal rhythm of the heart. See: Feature record | Search on this feature CardiomyopathyMedGen UID: 209232 •Concept ID: C0878544 •Disease or Syndrome A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. See: Feature record | Search on this feature Mild intellectual disabilityMedGen UID: 10044 •Concept ID: C0026106 •Mental or Behavioral Dysfunction Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. See: Feature record | Search on this feature Waddling gaitMedGen UID: 66667 •Concept ID: C0231712 •Finding Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck. See: Feature record | Search on this feature Tip-toe gaitMedGen UID: 98104 •Concept ID: C0427144 •Finding An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait. See: Feature record | Search on this feature Obstructive sleep apnea syndromeMedGen UID: 101045 •Concept ID: C0520679 •Disease or Syndrome Obstructive sleep apnea is a common, chronic, complex disease associated with serious cardiovascular and neuropsychologic sequelae and with substantial social and economic costs (Palmer et al., 2003). See: Feature record | Search on this feature HyporeflexiaMedGen UID: 195967 •Concept ID: C0700078 •Finding Reduction of neurologic reflexes such as the knee-jerk reaction. See: Feature record | Search on this feature Loss of ambulationMedGen UID: 332305 •Concept ID: C1836843 •Finding Inability to walk in a person who previous had the ability to walk. See: Feature record | Search on this feature Delayed gross motor developmentMedGen UID: 332508 •Concept ID: C1837658 •Finding A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. See: Feature record | Search on this feature HyperlordosisMedGen UID: 9805 •Concept ID: C0024003 •Finding Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine. See: Feature record | Search on this feature HypotoniaMedGen UID: 10133 •Concept ID: C0026827 •Finding Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. See: Feature record | Search on this feature Muscular dystrophyMedGen UID: 44527 •Concept ID: C0026850 •Disease or Syndrome The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. See: Feature record | Search on this feature ScoliosisMedGen UID: 11348 •Concept ID: C0036439 •Disease or Syndrome The presence of an abnormal lateral curvature of the spine. See: Feature record | Search on this feature Muscle weaknessMedGen UID: 57735 •Concept ID: C0151786 •Finding Reduced strength of muscles. See: Feature record | Search on this feature Gowers signMedGen UID: 65865 •Concept ID: C0234182 •Finding A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs. See: Feature record | Search on this feature Difficulty climbing stairsMedGen UID: 68676 •Concept ID: C0239067 •Finding Reduced ability to climb stairs. See: Feature record | Search on this feature Flexion contractureMedGen UID: 83069 •Concept ID: C0333068 •Anatomical Abnormality A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. See: Feature record | Search on this feature Achilles tendon contractureMedGen UID: 98052 •Concept ID: C0410264 •Anatomical Abnormality A contracture of the Achilles tendon. See: Feature record | Search on this feature Hamstring contracturesMedGen UID: 98375 •Concept ID: C0410266 •Anatomical Abnormality See: Feature record | Search on this feature Calf muscle hypertrophyMedGen UID: 335868 •Concept ID: C1843057 •Finding Muscle hypertrophy affecting the calf muscles. See: Feature record | Search on this feature Respiratory failureMedGen UID: 257837 •Concept ID: C1145670 •Disease or Syndrome A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. See: Feature record | Search on this feature HypoventilationMedGen UID: 469022 •Concept ID: C3203358 •Pathologic Function A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide). See: Feature record | Search on this feature Restrictive ventilatory defectMedGen UID: 478856 •Concept ID: C3277226 •Finding A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. See: Feature record | Search on this feature Respiratory insufficiency due to muscle weaknessMedGen UID: 812797 •Concept ID: C3806467 •Finding See: Feature record | Search on this feature Elevated circulating creatine kinase concentrationMedGen UID: 69128 •Concept ID: C0241005 •Finding An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. See: Feature record | Search on this featureShow allHide all

• Abnormality of limbs
  • Calf muscle pseudohypertrophy
  • Knee flexion contracture
• Abnormality of metabolism/homeostasis
  • Elevated circulating creatine kinase concentration
• Abnormality of the cardiovascular system
  • Abnormal EKG
  • Cardiac arrhythmia
  • Cardiomyopathy
  • Congestive heart failure
  • Primary dilated cardiomyopathy
• Abnormality of the musculoskeletal system
  • Achilles tendon contracture
  • Calf muscle hypertrophy
  • Difficulty climbing stairs
  • Flexion contracture
  • Gowers sign
  • Hamstring contractures
  • Hyperlordosis
  • Hypotonia
  • Muscle weakness
  • Muscular dystrophy
  • Scoliosis
• Abnormality of the nervous system
  • Delayed gross motor development
  • Hyporeflexia
  • Loss of ambulation
  • Mild intellectual disability
  • Obstructive sleep apnea syndrome
  • Tip-toe gait
  • Waddling gait
• Abnormality of the respiratory system
  • Hypoventilation
  • Respiratory failure
  • Respiratory insufficiency due to muscle weakness
  • Restrictive ventilatory defect

Term Hierarchy

• GTR
• MeSH
• Orphanet

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

• CROGVNeuromuscular disease caused by qualitative or quantitative defects of dystrophin
  • CROGVBecker muscular dystrophy
  • CROGVDilated cardiomyopathy 3B
  • CROGVDuchenne muscular dystrophy

• Duchenne and Becker muscular dystrophy
  • Duchenne muscular dystrophy

Follow this link to review classifications for Duchenne muscular dystrophy in Orphanet. Professional guidelines

PubMed

Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy. Nascimento Osorio A, Medina Cantillo J, Camacho Salas A, Madruga Garrido M, Vilchez Padilla JJ Neurologia (Engl Ed) 2019 Sep;34(7):469-481. Epub 2018 Mar 9 doi: 10.1016/j.nrl.2018.01.001. PMID: 29526319 Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Birnkrant DJ, Bushby K, Bann CM, Alman BA, Apkon SD, Blackwell A, Case LE, Cripe L, Hadjiyannakis S, Olson AK, Sheehan DW, Bolen J, Weber DR, Ward LM; DMD Care Considerations Working Group Lancet Neurol 2018 Apr;17(4):347-361. Epub 2018 Feb 3 doi: 10.1016/S1474-4422(18)30025-5. PMID: 29395990Free PMC Article Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, Case LE, Clemens PR, Hadjiyannakis S, Pandya S, Street N, Tomezsko J, Wagner KR, Ward LM, Weber DR; DMD Care Considerations Working Group Lancet Neurol 2018 Mar;17(3):251-267. Epub 2018 Feb 3 doi: 10.1016/S1474-4422(18)30024-3. PMID: 29395989Free PMC Article See all (623)

Curated

American College of Medical Genetics and Genomics, Algorithm, ELEVATED CREATINEKINASE(CK)-MM , Genetic Neuromuscular Disorders, 2022

American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, No Pathogenic Variant in Dystrophin (DMD) Gene after elevated creatine kinase muscle isoform (CK-MM), Genetic Neuromuscular Disease, 2020

American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated creatine kinase muscle isoform (CKMM), Genetic Neuromuscular Disease, 2020

American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Pathogenic Variant in Dystrophin (DMD Gene) and elevated creatine kinase muscle isoform (CK-MM), Duchenne and Becker Muscular Dystrophy, 2019

Orphanet, Duchenne muscular dystrophy, 2013

American College of Medical Genetics & Genomics Genetic Testing ACT Sheet, Duchenne and Becker Muscular Dystrophy, 2012

These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the FAQ for details.These guidelines are manually curated by the MedGen team to supplement articles available in PubMed. See the FAQ for details. Recent clinical studiesAdditional literature that covers other topics related to this disease may be found in PubMed

Etiology

Family Involvement and at-Home Physical Therapy on Duchenne Muscular Dystrophy: A Randomized Controlled Trial. Hernández-Sánchez A, Parra-Sánchez L, Montolio M, Rueda-Ruzafa L, Ortiz-Comino L, Sánchez-Joya MDM Pediatr Neurol 2024 Mar;152:34-40. Epub 2023 Dec 22 doi: 10.1016/j.pediatrneurol.2023.12.015. PMID: 38184986 Comparing Deflazacort and Prednisone in Duchenne Muscular Dystrophy. Biggar WD, Skalsky A, McDonald CM J Neuromuscul Dis 2022;9(4):463-476. doi: 10.3233/JND-210776. PMID: 35723111Free PMC Article Exercise Training in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis. Hammer S, Toussaint M, Vollsæter M, Nesbjørg Tvedt M, Drange Røksund O, Reychler G, Lund H, Andersen T J Rehabil Med 2022 Jan 11;54:jrm00250. doi: 10.2340/jrm.v53.985. PMID: 35642324Free PMC Article Repeated intravenous cardiosphere-derived cell therapy in late-stage Duchenne muscular dystrophy (HOPE-2): a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial. McDonald CM, Marbán E, Hendrix S, Hogan N, Ruckdeschel Smith R, Eagle M, Finkel RS, Tian C, Janas J, Harmelink MM, Varadhachary AS, Taylor MD, Hor KN, Mayer OH, Henricson EK, Furlong P, Ascheim DD, Rogy S, Williams P, Marbán L; HOPE-2 Study Group Lancet 2022 Mar 12;399(10329):1049-1058. doi: 10.1016/S0140-6736(22)00012-5. PMID: 35279258 Therapeutic Strategies for Duchenne Muscular Dystrophy: An Update. Sun C, Shen L, Zhang Z, Xie X Genes (Basel) 2020 Jul 23;11(8) doi: 10.3390/genes11080837. PMID: 32717791Free PMC Article See all (2429)

Diagnosis

Duchenne muscular dystrophy: Current treatment and emerging exon skipping and gene therapy approach. Patterson G, Conner H, Groneman M, Blavo C, Parmar MS Eur J Pharmacol 2023 May 15;947:175675. Epub 2023 Mar 23 doi: 10.1016/j.ejphar.2023.175675. PMID: 36963652 Duchenne muscular dystrophy. Nat Rev Dis Primers 2021 Feb 18;7(1):14. doi: 10.1038/s41572-021-00255-4. PMID: 33602922 Therapeutic Strategies for Duchenne Muscular Dystrophy: An Update. Sun C, Shen L, Zhang Z, Xie X Genes (Basel) 2020 Jul 23;11(8) doi: 10.3390/genes11080837. PMID: 32717791Free PMC Article Duchenne muscular dystrophy. Annexstad EJ, Lund-Petersen I, Rasmussen M Tidsskr Nor Laegeforen 2014 Aug 5;134(14):1361-4. doi: 10.4045/tidsskr.13.0836. PMID: 25096430 Duchenne muscular dystrophy. Sussman M J Am Acad Orthop Surg 2002 Mar-Apr;10(2):138-51. doi: 10.5435/00124635-200203000-00009. PMID: 11929208 See all (2214)

Therapy

CRISPR-Based Gene Therapies: From Preclinical to Clinical Treatments. Laurent M, Geoffroy M, Pavani G, Guiraud S Cells 2024 May 8;13(10) doi: 10.3390/cells13100800. PMID: 38786024Free PMC Article Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Mercuri E, Vilchez JJ, Boespflug-Tanguy O, Zaidman CM, Mah JK, Goemans N, Müller-Felber W, Niks EH, Schara-Schmidt U, Bertini E, Comi GP, Mathews KD, Servais L, Vandenborne K, Johannsen J, Messina S, Spinty S, McAdam L, Selby K, Byrne B, Laverty CG, Carroll K, Zardi G, Cazzaniga S, Coceani N, Bettica P, McDonald CM; EPIDYS Study Group Lancet Neurol 2024 Apr;23(4):393-403. doi: 10.1016/S1474-4422(24)00036-X. PMID: 38508835 An update on Becker muscular dystrophy. Straub V, Guglieri M Curr Opin Neurol 2023 Oct 1;36(5):450-454. Epub 2023 Aug 21 doi: 10.1097/WCO.0000000000001191. PMID: 37591308Free PMC Article Efficacy of two intervention approaches on functional walking capacity and balance in children with Duchene muscular dystrophy. Sherief AEAA, Abd ElAziz HG, Ali MS J Musculoskelet Neuronal Interact 2021 Sep 1;21(3):343-350. PMID: 34465672Free PMC Article Systemic AAV Micro-dystrophin Gene Therapy for Duchenne Muscular Dystrophy. Duan D Mol Ther 2018 Oct 3;26(10):2337-2356. Epub 2018 Jul 17 doi: 10.1016/j.ymthe.2018.07.011. PMID: 30093306Free PMC Article See all (1794)

Prognosis

Exon-Skipping in Duchenne Muscular Dystrophy. Takeda S, Clemens PR, Hoffman EP J Neuromuscul Dis 2021;8(s2):S343-S358. doi: 10.3233/JND-210682. PMID: 34180420Free PMC Article Assessment of Systemic Delivery of rAAVrh74.MHCK7.micro-dystrophin in Children With Duchenne Muscular Dystrophy: A Nonrandomized Controlled Trial. Mendell JR, Sahenk Z, Lehman K, Nease C, Lowes LP, Miller NF, Iammarino MA, Alfano LN, Nicholl A, Al-Zaidy S, Lewis S, Church K, Shell R, Cripe LH, Potter RA, Griffin DA, Pozsgai E, Dugar A, Hogan M, Rodino-Klapac LR JAMA Neurol 2020 Sep 1;77(9):1122-1131. doi: 10.1001/jamaneurol.2020.1484. PMID: 32539076Free PMC Article Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis. Crisafulli S, Sultana J, Fontana A, Salvo F, Messina S, Trifirò G Orphanet J Rare Dis 2020 Jun 5;15(1):141. doi: 10.1186/s13023-020-01430-8. PMID: 32503598Free PMC Article Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy. Nascimento Osorio A, Medina Cantillo J, Camacho Salas A, Madruga Garrido M, Vilchez Padilla JJ Neurologia (Engl Ed) 2019 Sep;34(7):469-481. Epub 2018 Mar 9 doi: 10.1016/j.nrl.2018.01.001. PMID: 29526319 The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review. Ryder S, Leadley RM, Armstrong N, Westwood M, de Kock S, Butt T, Jain M, Kleijnen J Orphanet J Rare Dis 2017 Apr 26;12(1):79. doi: 10.1186/s13023-017-0631-3. PMID: 28446219Free PMC Article See all (1256)

Clinical prediction guides

Long-term safety and functional outcomes of delandistrogene moxeparvovec gene therapy in patients with Duchenne muscular dystrophy: A phase 1/2a nonrandomized trial. Mendell JR, Sahenk Z, Lehman KJ, Lowes LP, Reash NF, Iammarino MA, Alfano LN, Lewis S, Church K, Shell R, Potter RA, Griffin DA, Hogan M, Wang S, Mason S, Darton E, Rodino-Klapac LR Muscle Nerve 2024 Jan;69(1):93-98. Epub 2023 Aug 14 doi: 10.1002/mus.27955. PMID: 37577753 Delandistrogene Moxeparvovec Gene Therapy in Ambulatory Patients (Aged ≥4 to <8 Years) with Duchenne Muscular Dystrophy: 1-Year Interim Results from Study SRP-9001-103 (ENDEAVOR). Zaidman CM, Proud CM, McDonald CM, Lehman KJ, Goedeker NL, Mason S, Murphy AP, Guridi M, Wang S, Reid C, Darton E, Wandel C, Lewis S, Malhotra J, Griffin DA, Potter RA, Rodino-Klapac LR, Mendell JR Ann Neurol 2023 Nov;94(5):955-968. Epub 2023 Sep 7 doi: 10.1002/ana.26755. PMID: 37539981 Repeated intravenous cardiosphere-derived cell therapy in late-stage Duchenne muscular dystrophy (HOPE-2): a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial. McDonald CM, Marbán E, Hendrix S, Hogan N, Ruckdeschel Smith R, Eagle M, Finkel RS, Tian C, Janas J, Harmelink MM, Varadhachary AS, Taylor MD, Hor KN, Mayer OH, Henricson EK, Furlong P, Ascheim DD, Rogy S, Williams P, Marbán L; HOPE-2 Study Group Lancet 2022 Mar 12;399(10329):1049-1058. doi: 10.1016/S0140-6736(22)00012-5. PMID: 35279258 Early Gross Motor Milestones in Duchenne Muscular Dystrophy. Norcia G, Lucibello S, Coratti G, Onesimo R, Pede E, Ferrantini G, Brogna C, Cicala G, Carnicella S, Forcina N, Fanelli L, Pane M, Mercuri E J Neuromuscul Dis 2021;8(4):453-456. doi: 10.3233/JND-210640. PMID: 33935100Free PMC Article Duchenne muscular dystrophy: an overview to the cardiologist. de Souza F, Bittar Braune C, Dos Santos Nucera APC Expert Rev Cardiovasc Ther 2020 Dec;18(12):867-872. Epub 2020 Oct 12 doi: 10.1080/14779072.2020.1828065. PMID: 32985912 See all (2174) Recent systematic reviews Effectiveness of conservative non-pharmacological interventions in people with muscular dystrophies: a systematic review and meta-analysis. Leone E, Pandyan A, Rogers A, Kulshrestha R, Hill J, Philp F J Neurol Neurosurg Psychiatry 2024 Apr 12;95(5):442-453. doi: 10.1136/jnnp-2023-331988. PMID: 38124127Free PMC Article Exercise Training in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis. Hammer S, Toussaint M, Vollsæter M, Nesbjørg Tvedt M, Drange Røksund O, Reychler G, Lund H, Andersen T J Rehabil Med 2022 Jan 11;54:jrm00250. doi: 10.2340/jrm.v53.985. PMID: 35642324Free PMC Article Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis. Crisafulli S, Sultana J, Fontana A, Salvo F, Messina S, Trifirò G Orphanet J Rare Dis 2020 Jun 5;15(1):141. doi: 10.1186/s13023-020-01430-8. PMID: 32503598Free PMC Article The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review. Ryder S, Leadley RM, Armstrong N, Westwood M, de Kock S, Butt T, Jain M, Kleijnen J Orphanet J Rare Dis 2017 Apr 26;12(1):79. doi: 10.1186/s13023-017-0631-3. PMID: 28446219Free PMC Article Corticosteroids for the treatment of Duchenne muscular dystrophy. Matthews E, Brassington R, Kuntzer T, Jichi F, Manzur AY Cochrane Database Syst Rev 2016 May 5;2016(5):CD003725. doi: 10.1002/14651858.CD003725.pub4. PMID: 27149418Free PMC Article See all (102)

Supplemental Content

Table of contents Genetic Testing Registry

• Deletion/duplication analysis (88)
• Detection of homozygosity (2)
• Enzyme assay (10)
• Linkage analysis (1)
• Microsatellite instability testing (MSI) (1)
• Mutation scanning of select exons (5)
• Mutation scanning of the entire coding region (3)
• Sequence analysis of select exons (24)
• Sequence analysis of the entire coding region (116)
• Targeted variant analysis (27)
• See all (165)

Clinical resources

• OMIM
• Orphanet
• ClinicalTrials.gov

Practice guidelines

• PubMedSee practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
• BookshelfSee practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

Curated

• ACMG Algorithm, 2022American College of Medical Genetics and Genomics, Algorithm, ELEVATED CREATINEKINASE(CK)-MM , Genetic Neuromuscular Disorders, 2022
• ACMG ACT, 2020American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, No Pathogenic Variant in Dystrophin (DMD) Gene after elevated creatine kinase muscle isoform (CK-MM), Genetic Neuromuscular Disease, 2020
• ACMG ACT, 2020American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated creatine kinase muscle isoform (CKMM), Genetic Neuromuscular Disease, 2020
• ACMG ACT, 2019American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Pathogenic Variant in Dystrophin (DMD Gene) and elevated creatine kinase muscle isoform (CK-MM), Duchenne and Becker Muscular Dystrophy, 2019
• Orphanet, 2013Orphanet, Duchenne muscular dystrophy, 2013
• ACMG ACT, 2012American College of Medical Genetics &amp; Genomics Genetic Testing ACT Sheet, Duchenne and Becker Muscular Dystrophy, 2012

Molecular resources

• OMIM
• View DMD variations in ClinVar
• RefSeqGene
• Coriell Institute for Medical Research

Consumer resources

• MalaCards
• MedlinePlus
• MedlinePlusGenetics (GHR)
• NCATS Office of Rare Diseases Research (GARD)

Reviews

• GeneReviews
• GeneReviews
• PubMed Clinical Queries
• Reviews in PubMed

Related information

• ClinVar Related medical variations
• Gene Related information in NCBI Gene
• GTR Related information in GTR
• GTR(Clinical) Clinical tests in GTR
• MeSH Related Medical Subject Headings
• OMIM Related records in OMIM
• OMIM(Genes) OMIM records containing genes associated with phenotypes registered in MedGen
• PMC Articles Related information in PubMed Central Links
• PubMed Related literature resources in PubMed
• PubMed (Bookshelf cited) Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries
• PubMed (GeneReviews) GeneReviews in PubMed
• PubMed (OMIM) Related literature resources in PubMed

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