U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Becker muscular dystrophy(BMD)

MedGen UID:
182959
Concept ID:
C0917713
Disease or Syndrome
Synonyms: Becker's muscular dystrophy; Benign pseudohypertrophic muscular dystrophy; BMD; Muscular dystrophy pseudohypertrophic progressive, Becker type
SNOMED CT: Becker muscular dystrophy (387732009); Becker's disease (387732009); BMD - Becker muscular dystrophy (387732009); Becker's muscular dystrophy (387732009)
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:0010311
OMIM®: 300376
Orphanet: ORPHA98895

Disease characteristics

Excerpted from the GeneReview: Dystrophinopathies
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]
Authors:
Basil T Darras  |  David K Urion  |  Partha S Ghosh   view full author information

Additional descriptions

From OMIM
The muscular dystrophy that carries the Becker eponym is similar to Duchenne muscular dystrophy in the distribution of muscle wasting and weakness, which is mainly proximal, but the course is more benign, with age of onset around 12 years; some patients have no symptoms until much later in life. Loss of ambulation also varies from adolescence onward, with death usually in the fourth or fifth decade. In some cases, as in Duchenne muscular dystrophy, a degree of mental impairment is present (Emery, 2002). As in DMD, about 5 to 10% of female carriers of this X-linked disorder show muscle weakness, and frequently enlarged calves--so-called manifesting heterozygotes. Such weakness is often asymmetric; it can develop in childhood or not become evident until adult life, and can be slowly progressive or remain static. Because weakness is essentially proximal, differentiation from limb-girdle muscular dystrophy is essential for genetic counseling. In both DMD and BMD, female carriers may develop dilated cardiomyopathy in the absence of apparent weakness (Grain et al., 2001).  http://www.omim.org/entry/300376
From MedlinePlus Genetics
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.

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.

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.  https://medlineplus.gov/genetics/condition/duchenne-and-becker-muscular-dystrophy

Clinical features

From HPO
Myalgia
MedGen UID:
68541
Concept ID:
C0231528
Sign or Symptom
Pain in muscle.
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.
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.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
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.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
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 Becker muscular dystrophy in Orphanet.

Professional guidelines

PubMed

Tavakoli NP, Gruber D, Armstrong N, Chung WK, Maloney B, Park S, Wynn J, Koval-Burt C, Verdade L, Tegay DH, Cohen LL, Shapiro N, Kennedy A, Noritz G, Ciafaloni E, Weinberger B, Ellington M Jr, Schleien C, Spinazzola R, Sood S, Brower A, Lloyd-Puryear M, Caggana M; Duchenne Muscular Dystrophy Pilot Study Group
Ann Clin Transl Neurol 2023 Aug;10(8):1383-1396. Epub 2023 Jun 23 doi: 10.1002/acn3.51829. PMID: 37350320Free PMC Article
Groh WJ, Bhakta D, Tomaselli GF, Aleong RG, Teixeira RA, Amato A, Asirvatham SJ, Cha YM, Corrado D, Duboc D, Goldberger ZD, Horie M, Hornyak JE, Jefferies JL, Kääb S, Kalman JM, Kertesz NJ, Lakdawala NK, Lambiase PD, Lubitz SA, McMillan HJ, McNally EM, Milone M, Namboodiri N, Nazarian S, Patton KK, Russo V, Sacher F, Santangeli P, Shen WK, Sobral Filho DC, Stambler BS, Stöllberger C, Wahbi K, Wehrens XHT, Weiner MM, Wheeler MT, Zeppenfeld K
Heart Rhythm 2022 Oct;19(10):e61-e120. Epub 2022 Apr 29 doi: 10.1016/j.hrthm.2022.04.022. PMID: 35500790
Taylor PJ, Maroulis S, Mullan GL, Pedersen RL, Baumli A, Elakis G, Piras S, Walsh C, Prósper-Gutiérrez B, De La Puente-Alonso F, Bell CG, Mowat DR, Johnston HM, Buckley MF
J Med Genet 2007 Jun;44(6):368-72. Epub 2007 Jan 26 doi: 10.1136/jmg.2006.047464. PMID: 17259292Free 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

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

Recent clinical studies

Etiology

Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, Hmaimess G, Jabbour R, Mehawej C, Alame S, Hani A, Hasbini D, Ghanem I, Koussa S, Al-Ali MT, Obeid M, Talea DB, Lefranc G, Lévy N, Leturcq F, El Hayek S, Delague V, Urtizberea JA
J Neuromuscul Dis 2022;9(1):193-210. doi: 10.3233/JND-210652. PMID: 34602496Free PMC Article
Fortunato F, Farnè M, Ferlini A
Neuromuscul Disord 2021 Oct;31(10):1013-1020. doi: 10.1016/j.nmd.2021.08.004. PMID: 34736624
Silva IS, Pedrosa R, Azevedo IG, Forbes AM, Fregonezi GA, Dourado Junior ME, Lima SR, Ferreira GM
Cochrane Database Syst Rev 2019 Sep 5;9(9):CD011711. doi: 10.1002/14651858.CD011711.pub2. PMID: 31487757Free PMC Article
Kamdar F, Garry DJ
J Am Coll Cardiol 2016 May 31;67(21):2533-46. doi: 10.1016/j.jacc.2016.02.081. PMID: 27230049
Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM, Pestronk A, Florence JM, Connolly AM, Mathews KD, Stephan CM, Laubenthal KS, Wong BL, Morehart PJ, Meyer A, Finkel RS, Bonnemann CG, Medne L, Day JW, Dalton JC, Margolis MK, Hinton VJ; United Dystrophinopathy Project Consortium, Weiss RB
Hum Mutat 2009 Dec;30(12):1657-66. doi: 10.1002/humu.21114. PMID: 19937601Free PMC Article

Diagnosis

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
Magot A, Wahbi K, Leturcq F, Jaffre S, Péréon Y, Sole G; French BMD working group
J Neurol 2023 Oct;270(10):4763-4781. Epub 2023 Jul 9 doi: 10.1007/s00415-023-11837-5. PMID: 37422773
Waldrop MA, Flanigan KM
Curr Opin Neurol 2019 Oct;32(5):722-727. doi: 10.1097/WCO.0000000000000739. PMID: 31343429
Aartsma-Rus A, Ginjaar IB, Bushby K
J Med Genet 2016 Mar;53(3):145-51. Epub 2016 Jan 11 doi: 10.1136/jmedgenet-2015-103387. PMID: 26754139Free PMC Article
Flanigan KM
Neurol Clin 2014 Aug;32(3):671-88, viii. doi: 10.1016/j.ncl.2014.05.002. PMID: 25037084

Therapy

Lee A, Moon J, Yu J, Kho C
Int J Mol Sci 2022 Jul 14;23(14) doi: 10.3390/ijms23147785. PMID: 35887128Free PMC Article
Silva IS, Pedrosa R, Azevedo IG, Forbes AM, Fregonezi GA, Dourado Junior ME, Lima SR, Ferreira GM
Cochrane Database Syst Rev 2019 Sep 5;9(9):CD011711. doi: 10.1002/14651858.CD011711.pub2. PMID: 31487757Free PMC Article
Waldrop MA, Flanigan KM
Curr Opin Neurol 2019 Oct;32(5):722-727. doi: 10.1097/WCO.0000000000000739. PMID: 31343429
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
Kamdar F, Garry DJ
J Am Coll Cardiol 2016 May 31;67(21):2533-46. doi: 10.1016/j.jacc.2016.02.081. PMID: 27230049

Prognosis

Magot A, Wahbi K, Leturcq F, Jaffre S, Péréon Y, Sole G; French BMD working group
J Neurol 2023 Oct;270(10):4763-4781. Epub 2023 Jul 9 doi: 10.1007/s00415-023-11837-5. PMID: 37422773
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
Silva IS, Pedrosa R, Azevedo IG, Forbes AM, Fregonezi GA, Dourado Junior ME, Lima SR, Ferreira GM
Cochrane Database Syst Rev 2019 Sep 5;9(9):CD011711. doi: 10.1002/14651858.CD011711.pub2. PMID: 31487757Free PMC Article
Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM, Pestronk A, Florence JM, Connolly AM, Mathews KD, Stephan CM, Laubenthal KS, Wong BL, Morehart PJ, Meyer A, Finkel RS, Bonnemann CG, Medne L, Day JW, Dalton JC, Margolis MK, Hinton VJ; United Dystrophinopathy Project Consortium, Weiss RB
Hum Mutat 2009 Dec;30(12):1657-66. doi: 10.1002/humu.21114. PMID: 19937601Free PMC Article
Taylor PJ, Maroulis S, Mullan GL, Pedersen RL, Baumli A, Elakis G, Piras S, Walsh C, Prósper-Gutiérrez B, De La Puente-Alonso F, Bell CG, Mowat DR, Johnston HM, Buckley MF
J Med Genet 2007 Jun;44(6):368-72. Epub 2007 Jan 26 doi: 10.1136/jmg.2006.047464. PMID: 17259292Free PMC Article

Clinical prediction guides

Nakamura A, Matsumura T, Ogata K, Mori-Yoshimura M, Takeshita E, Kimura K, Kawashima T, Tomo Y, Arahata H, Miyazaki D, Takeshima Y, Takahashi T, Ishigaki K, Kuru S, Wakisaka A, Awano H, Funato M, Sato T, Saito Y, Takada H, Sugie K, Kobayashi M, Ozasa S, Fujii T, Maegaki Y, Oi H, Tachimori H, Komaki H
Ann Clin Transl Neurol 2023 Dec;10(12):2360-2372. Epub 2023 Oct 26 doi: 10.1002/acn3.51925. PMID: 37882106Free 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
Silva IS, Pedrosa R, Azevedo IG, Forbes AM, Fregonezi GA, Dourado Junior ME, Lima SR, Ferreira GM
Cochrane Database Syst Rev 2019 Sep 5;9(9):CD011711. doi: 10.1002/14651858.CD011711.pub2. PMID: 31487757Free PMC Article
Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM, Pestronk A, Florence JM, Connolly AM, Mathews KD, Stephan CM, Laubenthal KS, Wong BL, Morehart PJ, Meyer A, Finkel RS, Bonnemann CG, Medne L, Day JW, Dalton JC, Margolis MK, Hinton VJ; United Dystrophinopathy Project Consortium, Weiss RB
Hum Mutat 2009 Dec;30(12):1657-66. doi: 10.1002/humu.21114. PMID: 19937601Free PMC Article
Taylor PJ, Maroulis S, Mullan GL, Pedersen RL, Baumli A, Elakis G, Piras S, Walsh C, Prósper-Gutiérrez B, De La Puente-Alonso F, Bell CG, Mowat DR, Johnston HM, Buckley MF
J Med Genet 2007 Jun;44(6):368-72. Epub 2007 Jan 26 doi: 10.1136/jmg.2006.047464. PMID: 17259292Free PMC Article

Recent systematic reviews

Pascual-Morena C, Cavero-Redondo I, Reina-Gutiérrez S, Saz-Lara A, López-Gil JF, Martínez-Vizcaíno V
Arch Phys Med Rehabil 2022 Dec;103(12):2444-2453. Epub 2022 Jul 15 doi: 10.1016/j.apmr.2022.05.015. PMID: 35839922
Ferrero A, Rossi M
Neurosci Biobehav Rev 2022 Jun;137:104648. Epub 2022 Mar 31 doi: 10.1016/j.neubiorev.2022.104648. PMID: 35367224
Pascual-Morena C, Martínez-Vizcaíno V, Saz-Lara A, López-Gil JF, Fernández-Bravo-Rodrigo J, Cavero-Redondo I
J Neurol 2022 Jul;269(7):3461-3469. Epub 2022 Mar 1 doi: 10.1007/s00415-022-11040-y. PMID: 35229191
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
Silva IS, Pedrosa R, Azevedo IG, Forbes AM, Fregonezi GA, Dourado Junior ME, Lima SR, Ferreira GM
Cochrane Database Syst Rev 2019 Sep 5;9(9):CD011711. doi: 10.1002/14651858.CD011711.pub2. PMID: 31487757Free 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
    • ACMG ACT, 2012
      American College of Medical Genetics & Genomics Genetic Testing ACT Sheet, Duchenne and Becker Muscular Dystrophy, 2012

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...