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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 inheritance
MedGen 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.
 
Gene (location): 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 dilation and congestive heart failure. Females heterozygous for a DMD pathogenic variant are at increased risk for DCM. [from GeneReviews]

Additional descriptions

From OMIM
Dystrophin-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/310200
From MedlinePlus Genetics
Muscular 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 contracture
MedGen 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.
Calf muscle pseudohypertrophy
MedGen UID:
374276
Concept ID:
C1839666
Finding
Enlargement of the muscles of the calf due to their replacement by connective tissue or fat.
Cardiac arrhythmia
MedGen 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.
Primary dilated cardiomyopathy
MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.
Congestive heart failure
MedGen 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.
Abnormal EKG
MedGen UID:
105507
Concept ID:
C0522055
Finding
Abnormal rhythm of the heart.
Cardiomyopathy
MedGen 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.
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Waddling gait
MedGen 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.
Tip-toe gait
MedGen 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.
Obstructive sleep apnea syndrome
MedGen 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).
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Loss of ambulation
MedGen UID:
332305
Concept ID:
C1836843
Finding
Inability to walk in a person who previous had the ability to walk.
Delayed gross motor development
MedGen 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.
Hyperlordosis
MedGen UID:
9805
Concept ID:
C0024003
Finding
Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.
Hypotonia
MedGen 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.
Muscular dystrophy
MedGen 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.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Gowers sign
MedGen 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.
Difficulty climbing stairs
MedGen UID:
68676
Concept ID:
C0239067
Finding
Reduced ability to climb stairs.
Flexion contracture
MedGen 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.
Achilles tendon contracture
MedGen UID:
98052
Concept ID:
C0410264
Anatomical Abnormality
A contracture of the Achilles tendon.
Hamstring contractures
MedGen UID:
98375
Concept ID:
C0410266
Anatomical Abnormality
Calf muscle hypertrophy
MedGen UID:
335868
Concept ID:
C1843057
Finding
Muscle hypertrophy affecting the calf muscles.
Respiratory failure
MedGen 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.
Hypoventilation
MedGen 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).
Restrictive ventilatory defect
MedGen 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.
Respiratory insufficiency due to muscle weakness
MedGen UID:
812797
Concept ID:
C3806467
Finding
Elevated circulating creatine kinase concentration
MedGen 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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Duchenne muscular dystrophy in Orphanet.

Professional guidelines

PubMed

Sharma G, Sharma AR, Bhattacharya M, Lee SS, Chakraborty C
Mol Ther 2021 Feb 3;29(2):571-586. Epub 2020 Sep 20 doi: 10.1016/j.ymthe.2020.09.028. PMID: 33238136Free PMC Article
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
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

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

Recent clinical studies

Etiology

Biggar WD, Skalsky A, McDonald CM
J Neuromuscul Dis 2022;9(4):463-476. doi: 10.3233/JND-210776. PMID: 35723111Free PMC Article
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
Sun C, Shen L, Zhang Z, Xie X
Genes (Basel) 2020 Jul 23;11(8) doi: 10.3390/genes11080837. PMID: 32717791Free PMC Article
Sun C, Serra C, Lee G, Wagner KR
Exp Neurol 2020 Jan;323:113086. Epub 2019 Oct 19 doi: 10.1016/j.expneurol.2019.113086. PMID: 31639376Free PMC Article
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

Diagnosis

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
Markati T, Oskoui M, Farrar MA, Duong T, Goemans N, Servais L
Lancet Neurol 2022 Sep;21(9):814-829. Epub 2022 Jul 15 doi: 10.1016/S1474-4422(22)00125-9. PMID: 35850122
Sun C, Shen L, Zhang Z, Xie X
Genes (Basel) 2020 Jul 23;11(8) doi: 10.3390/genes11080837. PMID: 32717791Free PMC Article
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
Flanigan KM
Neurol Clin 2014 Aug;32(3):671-88, viii. doi: 10.1016/j.ncl.2014.05.002. PMID: 25037084

Therapy

Markati T, Oskoui M, Farrar MA, Duong T, Goemans N, Servais L
Lancet Neurol 2022 Sep;21(9):814-829. Epub 2022 Jul 15 doi: 10.1016/S1474-4422(22)00125-9. PMID: 35850122
Biggar WD, Skalsky A, McDonald CM
J Neuromuscul Dis 2022;9(4):463-476. doi: 10.3233/JND-210776. PMID: 35723111Free PMC Article
Verhaart IEC, Aartsma-Rus A
Nat Rev Neurol 2019 Jul;15(7):373-386. doi: 10.1038/s41582-019-0203-3. PMID: 31147635
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
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

Prognosis

Lek A, Wong B, Keeler A, Blackwood M, Ma K, Huang S, Sylvia K, Batista AR, Artinian R, Kokoski D, Parajuli S, Putra J, Carreon CK, Lidov H, Woodman K, Pajusalu S, Spinazzola JM, Gallagher T, LaRovere J, Balderson D, Black L, Sutton K, Horgan R, Lek M, Flotte T
N Engl J Med 2023 Sep 28;389(13):1203-1210. doi: 10.1056/NEJMoa2307798. PMID: 37754285
Takeda S, Clemens PR, Hoffman EP
J Neuromuscul Dis 2021;8(s2):S343-S358. doi: 10.3233/JND-210682. PMID: 34180420Free PMC Article
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
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
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

Clinical prediction guides

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
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
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
McDonald CM, Muntoni F, Penematsa V, Jiang J, Kristensen A, Bibbiani F, Goodwin E, Gordish-Dressman H, Morgenroth L, Werner C, Li J, Able R, Trifillis P, Tulinius M; Study 019 investigators
J Comp Eff Res 2022 Feb;11(3):139-155. Epub 2021 Nov 18 doi: 10.2217/cer-2021-0196. PMID: 34791888Free PMC Article
Güneş Gencer GY, Yilmaz Ö
Clin Rehabil 2022 Mar;36(3):369-378. Epub 2021 Sep 2 doi: 10.1177/02692155211043265. PMID: 34474581

Recent systematic reviews

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
Salari N, Fatahi B, Valipour E, Kazeminia M, Fatahian R, Kiaei A, Shohaimi S, Mohammadi M
J Orthop Surg Res 2022 Feb 15;17(1):96. doi: 10.1186/s13018-022-02996-8. PMID: 35168641Free PMC Article
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
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
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See 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.
    • Bookshelf
      See 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, 2022
      American College of Medical Genetics and Genomics, Algorithm, ELEVATED CREATINEKINASE(CK)-MM , Genetic Neuromuscular Disorders, 2022
    • ACMG ACT, 2020
      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
    • ACMG ACT, 2020
      American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated creatine kinase muscle isoform (CKMM), Genetic Neuromuscular Disease, 2020
    • ACMG ACT, 2019
      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, 2013
      Orphanet, Duchenne muscular dystrophy, 2013
    • ACMG ACT, 2012
      American College of Medical Genetics & Genomics Genetic Testing ACT Sheet, Duchenne and Becker Muscular Dystrophy, 2012

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