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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
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Sources: HPO, OMIM, 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.
X-linked recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Duchenne muscular dystrophy (76670001); Pseudohypertrophic muscular dystrophy (76670001); Benign Duchenne muscular dystrophy (387732009); DMD - Duchenne muscular dystrophy (76670001)
 
Gene (location): DMD (Xp21.2-21.1)
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 dilated cardiomyopathy (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 indicate 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 GHR
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.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.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.  https://ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy

Clinical features

Cardiac arrhythmia
MedGen UID:
2039
Concept ID:
C0003811
Finding
A disorder in which there is abnormal electrical activity in the heart.
Primary dilated cardiomyopathy
MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal nocturnal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion). Arrhythmias and/or conduction system disease. Thromboembolic disease (from left ventricular mural thrombus) including stroke.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.
Hyperlordosis
MedGen UID:
9805
Concept ID:
C0024003
Finding
Abnormally increased curvature of the lumbar portion of the spinal column.
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.
Muscular dystrophy
MedGen UID:
44527
Concept ID:
C0026850
Disease or Syndrome
A group of inherited progressive muscle disorders characterized by muscle weakness and eventual death of the muscle tissues. Examples include Duchenne muscular dystrophy, Becker's muscular dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, and limb-girdle muscular dystrophy.
Waddling gait
MedGen UID:
66667
Concept ID:
C0231712
Finding
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.
Elevated serum creatine phosphokinase
MedGen UID:
69128
Concept ID:
C0241005
Finding
The caveolinopathies, a group of muscle diseases, can be classified into five phenotypes, which can be seen in different members of the same family: Limb-girdle muscular dystrophy 1C (LGMD1C), characterized by onset usually in the first decade, mild-to-moderate proximal muscle weakness, calf hypertrophy, positive Gower sign, and variable muscle cramps after exercise. Isolated hyperCKemia (i.e., elevated serum concentration of creatine kinase (CK) in the absence of signs of muscle disease) (HCK). Rippling muscle disease (RMD), characterized by signs of increased muscle irritability, such as percussion-induced rapid contraction (PIRC), percussion-induced muscle mounding (PIMM), and/or electrically silent muscle contractions (rippling muscle). Distal myopathy (DM), observed in one individual only Hypertrophic cardiomyopathy (HCM), without skeletal muscle manifestations.
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.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Sign or Symptom
Reduction of neurologic reflexes such as the knee-jerk reaction.
Scoliosis
MedGen UID:
195976
Concept ID:
C0700208
Finding
The presence of an abnormal lateral curvature of the spine.
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.
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.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Hypoventilation
MedGen UID:
469022
Concept ID:
C3203358
Pathologic Function
A reduction in the amount of air entering the pulmonary alveoli.

Term Hierarchy

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

Professional guidelines

PubMed

Birnkrant DJ, Bushby KM, Amin RS, Bach JR, Benditt JO, Eagle M, Finder JD, Kalra MS, Kissel JT, Koumbourlis AC, Kravitz RM
Pediatr Pulmonol 2010 Aug;45(8):739-48. doi: 10.1002/ppul.21254. PMID: 20597083
Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S, Poysky J, Shapiro F, Tomezsko J, Constantin C; DMD Care Considerations Working Group.
Lancet Neurol 2010 Feb;9(2):177-89. Epub 2009 Nov 27 doi: 10.1016/S1474-4422(09)70272-8. PMID: 19945914
Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S, Poysky J, Shapiro F, Tomezsko J, Constantin C; DMD Care Considerations Working Group.
Lancet Neurol 2010 Jan;9(1):77-93. Epub 2009 Nov 27 doi: 10.1016/S1474-4422(09)70271-6. PMID: 19945913
Birnkrant DJ, Panitch HB, Benditt JO, Boitano LJ, Carter ER, Cwik VA, Finder JD, Iannaccone ST, Jacobson LE, Kohn GL, Motoyama EK, Moxley RT, Schroth MK, Sharma GD, Sussman MD
Chest 2007 Dec;132(6):1977-86. doi: 10.1378/chest.07-0458. PMID: 18079231
American Academy of Pediatrics Section on Cardiology and Cardiac Surgery.
Pediatrics 2005 Dec;116(6):1569-73. doi: 10.1542/peds.2005-2448. PMID: 16322188
Moxley RT 3rd, Ashwal S, Pandya S, Connolly A, Florence J, Mathews K, Baumbach L, McDonald C, Sussman M, Wade C; Quality Standards Subcommittee of the American Academy of Neurology.; Practice Committee of the Child Neurology Society.
Neurology 2005 Jan 11;64(1):13-20. doi: 10.1212/01.WNL.0000148485.00049.B7. PMID: 15642897

External

Orphanet, Duchenne muscular dystrophy, 2013

Recent clinical studies

Etiology

Kim S, Zhu Y, Romitti PA, Fox DJ, Sheehan DW, Valdez R, Matthews D, Barber BJ; MD STARnet.
Neuromuscul Disord 2017 Aug;27(8):730-737. Epub 2017 Jun 5 doi: 10.1016/j.nmd.2017.05.019. PMID: 28645460Free PMC Article
Wang DN, Wang ZQ, Yan L, He J, Lin MT, Chen WJ, Wang N
Neuromuscul Disord 2017 Aug;27(8):715-722. Epub 2017 Feb 21 doi: 10.1016/j.nmd.2017.02.010. PMID: 28318817
Doorenweerd N, Dumas EM, Ghariq E, Schmid S, Straathof CS, Roest AA, Wokke BH, van Zwet EW, Webb AG, Hendriksen JG, van Buchem MA, Verschuuren JJ, Asllani I, Niks EH, van Osch MJ, Kan HE
Neuromuscul Disord 2017 Jan;27(1):29-37. Epub 2016 Oct 17 doi: 10.1016/j.nmd.2016.10.005. PMID: 27927595
Filippini M, Guerra A, Negosanti A, Santi S, Sarajlija J, Musti MA, Gobbi G, Lassonde M, Pini A
J Child Neurol 2016 Nov;31(13):1468-1474. Epub 2016 Jul 15 doi: 10.1177/0883073816656404. PMID: 27422795
Perera N, Sampaio H, Woodhead H, Farrar M
J Child Neurol 2016 Aug;31(9):1181-7. Epub 2016 May 24 doi: 10.1177/0883073816650034. PMID: 27221372

Diagnosis

Bianco B, Christofolini DM, Conceição GS, Barbosa CP
Einstein (Sao Paulo) 2017 Oct-Dec;15(4):489-491. Epub 2017 Sep 21 doi: 10.1590/S1679-45082017RC3994. PMID: 28954035Free PMC Article
Kim S, Zhu Y, Romitti PA, Fox DJ, Sheehan DW, Valdez R, Matthews D, Barber BJ; MD STARnet.
Neuromuscul Disord 2017 Aug;27(8):730-737. Epub 2017 Jun 5 doi: 10.1016/j.nmd.2017.05.019. PMID: 28645460Free PMC Article
Wang DN, Wang ZQ, Yan L, He J, Lin MT, Chen WJ, Wang N
Neuromuscul Disord 2017 Aug;27(8):715-722. Epub 2017 Feb 21 doi: 10.1016/j.nmd.2017.02.010. PMID: 28318817
Heutinck L, Kampen NV, Jansen M, Groot IJ
J Child Neurol 2017 Apr;32(5):450-457. Epub 2017 Jan 23 doi: 10.1177/0883073816685506. PMID: 28112012
Rutkove SB, Geisbush TR, Mijailovic A, Shklyar I, Pasternak A, Visyak N, Wu JS, Zaidman C, Darras BT
Pediatr Neurol 2014 Jul;51(1):88-92. Epub 2014 Feb 28 doi: 10.1016/j.pediatrneurol.2014.02.015. PMID: 24814059Free PMC Article

Therapy

Kim S, Zhu Y, Romitti PA, Fox DJ, Sheehan DW, Valdez R, Matthews D, Barber BJ; MD STARnet.
Neuromuscul Disord 2017 Aug;27(8):730-737. Epub 2017 Jun 5 doi: 10.1016/j.nmd.2017.05.019. PMID: 28645460Free PMC Article
Timpani CA, Hayes A, Rybalka E
Orphanet J Rare Dis 2017 May 25;12(1):100. doi: 10.1186/s13023-017-0652-y. PMID: 28545481Free PMC Article
Woodman KG, Coles CA, Lamandé SR, White JD
Nutrients 2016 Nov 9;8(11) doi: 10.3390/nu8110713. PMID: 27834844Free PMC Article
Perera N, Sampaio H, Woodhead H, Farrar M
J Child Neurol 2016 Aug;31(9):1181-7. Epub 2016 May 24 doi: 10.1177/0883073816650034. PMID: 27221372
Zschüntzsch J, Zhang Y, Klinker F, Makosch G, Klinge L, Malzahn D, Brinkmeier H, Liebetanz D, Schmidt J
J Neurochem 2016 Jan;136(2):351-62. Epub 2015 Aug 28 doi: 10.1111/jnc.13269. PMID: 26230042

Prognosis

McDonald CM, Henricson EK, Abresch RT, Duong T, Joyce NC, Hu F, Clemens PR, Hoffman EP, Cnaan A, Gordish-Dressman H; CINRG Investigators.
Lancet 2018 Feb 3;391(10119):451-461. Epub 2017 Nov 22 doi: 10.1016/S0140-6736(17)32160-8. PMID: 29174484
Wang DN, Wang ZQ, Yan L, He J, Lin MT, Chen WJ, Wang N
Neuromuscul Disord 2017 Aug;27(8):715-722. Epub 2017 Feb 21 doi: 10.1016/j.nmd.2017.02.010. PMID: 28318817
Doorenweerd N, Dumas EM, Ghariq E, Schmid S, Straathof CS, Roest AA, Wokke BH, van Zwet EW, Webb AG, Hendriksen JG, van Buchem MA, Verschuuren JJ, Asllani I, Niks EH, van Osch MJ, Kan HE
Neuromuscul Disord 2017 Jan;27(1):29-37. Epub 2016 Oct 17 doi: 10.1016/j.nmd.2016.10.005. PMID: 27927595
Mankodi A, Bishop CA, Auh S, Newbould RD, Fischbeck KH, Janiczek RL
Neuromuscul Disord 2016 Oct;26(10):650-658. Epub 2016 Jul 28 doi: 10.1016/j.nmd.2016.07.013. PMID: 27593185Free PMC Article
Zschüntzsch J, Zhang Y, Klinker F, Makosch G, Klinge L, Malzahn D, Brinkmeier H, Liebetanz D, Schmidt J
J Neurochem 2016 Jan;136(2):351-62. Epub 2015 Aug 28 doi: 10.1111/jnc.13269. PMID: 26230042

Clinical prediction guides

Kato M
Anthropol Med 2018 Apr;25(1):85-101. doi: 10.1080/13648470.2018.1427695. PMID: 29533090
Doorenweerd N, Dumas EM, Ghariq E, Schmid S, Straathof CS, Roest AA, Wokke BH, van Zwet EW, Webb AG, Hendriksen JG, van Buchem MA, Verschuuren JJ, Asllani I, Niks EH, van Osch MJ, Kan HE
Neuromuscul Disord 2017 Jan;27(1):29-37. Epub 2016 Oct 17 doi: 10.1016/j.nmd.2016.10.005. PMID: 27927595
Tandon A, Villa CR, Hor KN, Jefferies JL, Gao Z, Towbin JA, Wong BL, Mazur W, Fleck RJ, Sticka JJ, Benson DW, Taylor MD
J Am Heart Assoc 2015 Mar 26;4(4) doi: 10.1161/JAHA.114.001338. PMID: 25814625Free PMC Article
Banihani R, Smile S, Yoon G, Dupuis A, Mosleh M, Snider A, McAdam L
J Child Neurol 2015 Oct;30(11):1472-82. Epub 2015 Feb 6 doi: 10.1177/0883073815570154. PMID: 25660133
Connolly AM, Florence JM, Cradock MM, Eagle M, Flanigan KM, McDonald CM, Karachunski PI, Darras BT, Bushby K, Malkus EC, Golumbek PT, Zaidman CM, Miller JP, Mendell JR; MDA DMD Clinical Research Network.
Pediatr Neurol 2014 Jun;50(6):557-63. Epub 2014 Feb 15 doi: 10.1016/j.pediatrneurol.2014.02.006. PMID: 24842254Free PMC Article

Recent systematic reviews

Moreira-Marconi E, Sá-Caputo DC, Dionello CF, Guedes-Aguiar EO, Sousa-Gonçalves CR, Morel DS, Paineiras-Domingos LL, Souza PL, Kütter CR, Costa-Cavalcanti RG, Costa G, Paiva PC, Figueiredo C, Brandão-Sobrinho-Neto S, Stark C, Unger M, Bernardo-Filho M
Afr J Tradit Complement Altern Med 2017;14(4 Suppl):2-10. Epub 2017 Jul 7 doi: 10.21010/ajtcam.v14i4S.1. PMID: 28740938Free 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
El-Aloul B, Altamirano-Diaz L, Zapata-Aldana E, Rodrigues R, Malvankar-Mehta MS, Nguyen CT, Campbell C
Neuromuscul Disord 2017 Jan;27(1):4-14. Epub 2016 Oct 11 doi: 10.1016/j.nmd.2016.09.019. PMID: 27815032
Landfeldt E, Alfredsson L, Straub V, Lochmüller H, Bushby K, Lindgren P
Pharmacoeconomics 2017 Feb;35(2):249-258. doi: 10.1007/s40273-016-0461-5. PMID: 27798808Free PMC Article
Woodman KG, Coles CA, Lamandé SR, White JD
Nutrients 2016 Nov 9;8(11) doi: 10.3390/nu8110713. PMID: 27834844Free PMC Article

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