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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

Disease characteristics

Excerpted from the GeneReview: Dystrophinopathies
The dystrophinopathies include a spectrum of muscle disease caused by pathogenic variants in DMD, which encodes the protein dystrophin. 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 milestones, including delays in sitting and standing independently. Proximal weakness causes a waddling gait and difficulty climbing. DMD is rapidly progressive, with affected children being wheelchair dependent by age 13 years. Cardiomyopathy occurs in individuals with DMD after age 18 years. Few survive beyond the third decade, with respiratory complications and cardiomyopathy being common causes of death. Becker muscular dystrophy (BMD) is characterized by later-onset skeletal muscle weakness; some individuals remain ambulatory into their 20s. 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]
Authors:
Basil T Darras  |  David T Miller  |  David K Urion   view full author information

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

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.
Arrhythmia
MedGen UID:
167788
Concept ID:
C0855329
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.
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.
Contracture
MedGen UID:
3227
Concept ID:
C0009917
Acquired 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.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
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.
Muscular dystrophy
MedGen UID:
351199
Concept ID:
C1864711
Finding
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.
Creatine phosphokinase, elevated serum
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.
Contracture
MedGen UID:
3227
Concept ID:
C0009917
Acquired 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.
Contracture
MedGen UID:
3227
Concept ID:
C0009917
Acquired 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.

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

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
Fox DJ, Kumar A, West NA, DiRienzo AG, James KA, Oleszek J; Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).
J Child Neurol 2015 Jan;30(1):21-6. Epub 2014 Mar 28 doi: 10.1177/0883073813517263. PMID: 24682290
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
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

Diagnosis

Peay HL, Hollin IL, Bridges JF
J Genet Couns 2016 Apr;25(2):305-13. Epub 2015 Aug 21 doi: 10.1007/s10897-015-9872-2. PMID: 26289228
Raman SV, Hor KN, Mazur W, Halnon NJ, Kissel JT, He X, Tran T, Smart S, McCarthy B, Taylor MD, Jefferies JL, Rafael-Fortney JA, Lowe J, Roble SL, Cripe LH
Lancet Neurol 2015 Feb;14(2):153-61. Epub 2014 Dec 30 doi: 10.1016/S1474-4422(14)70318-7. PMID: 25554404Free PMC Article
Elliott SA, Davidson ZE, Davies PS, Truby H
Pediatr Neurol 2015 Jan;52(1):82-7. Epub 2014 Aug 27 doi: 10.1016/j.pediatrneurol.2014.08.008. PMID: 25301226
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
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

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
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
Fox DJ, Kumar A, West NA, DiRienzo AG, James KA, Oleszek J; Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).
J Child Neurol 2015 Jan;30(1):21-6. Epub 2014 Mar 28 doi: 10.1177/0883073813517263. PMID: 24682290
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
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

Prognosis

Peay HL, Hollin IL, Bridges JF
J Genet Couns 2016 Apr;25(2):305-13. Epub 2015 Aug 21 doi: 10.1007/s10897-015-9872-2. PMID: 26289228
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
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
Raman SV, Hor KN, Mazur W, Halnon NJ, Kissel JT, He X, Tran T, Smart S, McCarthy B, Taylor MD, Jefferies JL, Rafael-Fortney JA, Lowe J, Roble SL, Cripe LH
Lancet Neurol 2015 Feb;14(2):153-61. Epub 2014 Dec 30 doi: 10.1016/S1474-4422(14)70318-7. PMID: 25554404Free PMC Article
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

Clinical prediction guides

Hafner P, Bonati U, Erne B, Schmid M, Rubino D, Pohlman U, Peters T, Rutz E, Frank S, Neuhaus C, Deuster S, Gloor M, Bieri O, Fischmann A, Sinnreich M, Gueven N, Fischer D
PLoS One 2016 Jan 22;11(1):e0147634. doi: 10.1371/journal.pone.0147634. PMID: 26799743Free PMC Article
Peay HL, Hollin IL, Bridges JF
J Genet Couns 2016 Apr;25(2):305-13. Epub 2015 Aug 21 doi: 10.1007/s10897-015-9872-2. PMID: 26289228
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

Kawecka K, Theodoulides M, Hasoglu Y, Jarmin S, Kymalainen H, Le-Heron A, Popplewell L, Malerba A, Dickson G, Athanasopoulos T
Curr Gene Ther 2015;15(4):395-415. PMID: 26159373
Duan D
Hum Gene Ther Clin Dev 2015 Mar;26(1):57-69. Epub 2015 Feb 24 doi: 10.1089/humc.2015.006. PMID: 25710459Free PMC Article
van Ruiten HJ, Straub V, Bushby K, Guglieri M
Arch Dis Child 2014 Dec;99(12):1074-7. Epub 2014 Sep 3 doi: 10.1136/archdischild-2014-306366. PMID: 25187493Free PMC Article
Harvey A, Baker L, Williams K
J Paediatr Child Health 2014 Oct;50(10):E3-9. Epub 2013 Apr 7 doi: 10.1111/jpc.12177. PMID: 23560735
Cheuk DK, Wong V, Wraige E, Baxter P, Cole A
Cochrane Database Syst Rev 2013 Feb 28;(2):CD005375. doi: 10.1002/14651858.CD005375.pub3. PMID: 23450561

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