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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
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: Becker muscular dystrophy (387732009); Becker's disease (387732009); BMD - Becker muscular dystrophy (387732009); Becker's muscular dystrophy (387732009)
 
Gene (location): DMD (Xp21.2-21.1)
OMIM®: 300376
Orphanet: ORPHA98895

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
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 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

Myalgia
MedGen UID:
68541
Concept ID:
C0231528
Sign or Symptom
Pain in a muscle or group of muscles.
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.
Cardiomyopathy
MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
Cardiomyopathy is the name for diseases of the heart muscle. These diseases enlarge your heart muscle or make it thicker and more rigid than normal. In rare cases, scar tissue replaces the muscle tissue. Some people live long, healthy lives with cardiomyopathy. Some people don't even realize they have it. In others, however, it can make the heart less able to pump blood through the body. This can cause serious complications, including . - Heart failure . - Abnormal heart rhythms . - Heart valve problems. - Sudden cardiac arrest. Heart attacks, high blood pressure, infections, and other diseases can all cause cardiomyopathy. Some types of cardiomyopathy run in families. In many people, however, the cause is unknown. Treatment might involve medicines, surgery, other medical procedures, and lifestyle changes. . NIH: National Heart, Lung, and Blood Institute.
Arrhythmia
MedGen UID:
321993
Concept ID:
C1832603
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.
Hyporeflexia
MedGen UID:
195967
Concept ID:
C0700078
Sign or Symptom
Reduction of neurologic reflexes such as the knee-jerk reaction.
Muscular dystrophy
MedGen UID:
44527
Concept ID:
C0026850
Congenital Abnormality
Muscular dystrophy (MD) is a group of more than 30 inherited diseases. They all cause muscle weakness and muscle loss. Some forms of MD appear in infancy or childhood. Others may not appear until middle age or later. The different types can vary in whom they affect, which muscles they affect, and what the symptoms are. All forms of MD grow worse as the person's muscles get weaker. Most people with MD eventually lose the ability to walk. There is no cure for muscular dystrophy. Treatments can help with the symptoms and prevent complications. They include physical and speech therapy, orthopedic devices, surgery, and medications. Some people with MD have mild cases that worsen slowly. Others cases are disabling and severe. NIH: National Institute of Neurological Disorders and Stroke.
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.
Weakness
MedGen UID:
811372
Concept ID:
C3714552
Sign or Symptom
Reduced strength of muscles.
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.

Term Hierarchy

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

Professional guidelines

PubMed

Narayanaswami P, Weiss M, Selcen D, David W, Raynor E, Carter G, Wicklund M, Barohn RJ, Ensrud E, Griggs RC, Gronseth G, Amato AA; Guideline Development Subcommittee of the American Academy of Neurology.; Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine.
Neurology 2014 Oct 14;83(16):1453-63. doi: 10.1212/WNL.0000000000000892. PMID: 25313375Free PMC Article
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

Recent clinical studies

Etiology

Golaszewski S, Schwenker K, Bergmann J, Brigo F, Christova M, Trinka E, Nardone R
Neurosci Lett 2016 Jan 1;610:218-22. Epub 2015 Nov 10 doi: 10.1016/j.neulet.2015.11.008. PMID: 26562314
van den Bergen JC, Wokke BH, Hulsker MA, Verschuuren JJ, Aartsma-Rus AM
Neuromuscul Disord 2015 Mar;25(3):231-7. Epub 2015 Jan 14 doi: 10.1016/j.nmd.2015.01.002. PMID: 25633150
James KA, Cunniff C, Apkon SD, Mathews K, Lu Z, Holtzer C, Pandya S, Ciafaloni E, Miller L
J Pediatr Orthop 2015 Sep;35(6):640-4. doi: 10.1097/BPO.0000000000000348. PMID: 25379822
Anthony K, Cirak S, Torelli S, Tasca G, Feng L, Arechavala-Gomeza V, Armaroli A, Guglieri M, Straathof CS, Verschuuren JJ, Aartsma-Rus A, Helderman-van den Enden P, Bushby K, Straub V, Sewry C, Ferlini A, Ricci E, Morgan JE, Muntoni F
Brain 2011 Dec;134(Pt 12):3547-59. Epub 2011 Nov 18 doi: 10.1093/brain/awr291. PMID: 22102647Free PMC Article
Holtzer C, Meaney FJ, Andrews J, Ciafaloni E, Fox DJ, James KA, Lu Z, Miller L, Pandya S, Ouyang L, Cunniff C
Genet Med 2011 Nov;13(11):942-7. doi: 10.1097/GIM.0b013e31822623f1. PMID: 21836521

Diagnosis

Straathof CS, Van Heusden D, Ippel PF, Post JG, Voermans NC, De Visser M, Brusse E, Van Den Bergen JC, Van Der Kooi AJ, Verschuuren JJ, Ginjaar HB
Muscle Nerve 2016 Jan;53(1):44-8. Epub 2015 Jun 3 doi: 10.1002/mus.24691. PMID: 25900853
Lager C, Kroksmark AK
Eur J Paediatr Neurol 2015 Sep;19(5):537-46. Epub 2015 Apr 30 doi: 10.1016/j.ejpn.2015.04.005. PMID: 25978940
Bonati U, Schmid M, Hafner P, Haas T, Bieri O, Gloor M, Fischmann A, Fischer D
Muscle Nerve 2015 Jun;51(6):918-21. Epub 2015 Mar 31 doi: 10.1002/mus.24629. PMID: 25736228
van den Bergen JC, Wokke BH, Hulsker MA, Verschuuren JJ, Aartsma-Rus AM
Neuromuscul Disord 2015 Mar;25(3):231-7. Epub 2015 Jan 14 doi: 10.1016/j.nmd.2015.01.002. PMID: 25633150
Holtzer C, Meaney FJ, Andrews J, Ciafaloni E, Fox DJ, James KA, Lu Z, Miller L, Pandya S, Ouyang L, Cunniff C
Genet Med 2011 Nov;13(11):942-7. doi: 10.1097/GIM.0b013e31822623f1. PMID: 21836521

Therapy

Nakamura M, Sunagawa O, Hokama R, Tsuchiya H, Miyara T, Taba Y, Touma T
Int Heart J 2016 Sep 28;57(5):640-4. Epub 2016 Aug 16 doi: 10.1536/ihj.16-044. PMID: 27535714
Wein N, Alfano L, Flanigan KM
Pediatr Clin North Am 2015 Jun;62(3):723-42. Epub 2015 Apr 20 doi: 10.1016/j.pcl.2015.03.008. PMID: 26022172
James KA, Cunniff C, Apkon SD, Mathews K, Lu Z, Holtzer C, Pandya S, Ciafaloni E, Miller L
J Pediatr Orthop 2015 Sep;35(6):640-4. doi: 10.1097/BPO.0000000000000348. PMID: 25379822
Giglio V, Puddu PE, Holland MR, Camastra G, Ansalone G, Ricci E, Mela J, Sciarra F, Di Gennaro M
Ultrasound Med Biol 2014 Dec;40(12):2777-85. Epub 2014 Oct 11 doi: 10.1016/j.ultrasmedbio.2014.06.011. PMID: 25308949
Segura LG, Lorenz JD, Weingarten TN, Scavonetto F, Bojanić K, Selcen D, Sprung J
Paediatr Anaesth 2013 Sep;23(9):855-64. Epub 2013 Aug 6 doi: 10.1111/pan.12248. PMID: 23919455

Prognosis

Bonati U, Schmid M, Hafner P, Haas T, Bieri O, Gloor M, Fischmann A, Fischer D
Muscle Nerve 2015 Jun;51(6):918-21. Epub 2015 Mar 31 doi: 10.1002/mus.24629. PMID: 25736228
van den Bergen JC, Wokke BH, Hulsker MA, Verschuuren JJ, Aartsma-Rus AM
Neuromuscul Disord 2015 Mar;25(3):231-7. Epub 2015 Jan 14 doi: 10.1016/j.nmd.2015.01.002. PMID: 25633150
James KA, Cunniff C, Apkon SD, Mathews K, Lu Z, Holtzer C, Pandya S, Ciafaloni E, Miller L
J Pediatr Orthop 2015 Sep;35(6):640-4. doi: 10.1097/BPO.0000000000000348. PMID: 25379822
Anthony K, Cirak S, Torelli S, Tasca G, Feng L, Arechavala-Gomeza V, Armaroli A, Guglieri M, Straathof CS, Verschuuren JJ, Aartsma-Rus A, Helderman-van den Enden P, Bushby K, Straub V, Sewry C, Ferlini A, Ricci E, Morgan JE, Muntoni F
Brain 2011 Dec;134(Pt 12):3547-59. Epub 2011 Nov 18 doi: 10.1093/brain/awr291. PMID: 22102647Free PMC Article
Holtzer C, Meaney FJ, Andrews J, Ciafaloni E, Fox DJ, James KA, Lu Z, Miller L, Pandya S, Ouyang L, Cunniff C
Genet Med 2011 Nov;13(11):942-7. doi: 10.1097/GIM.0b013e31822623f1. PMID: 21836521

Clinical prediction guides

Ciafaloni E, Kumar A, Liu K, Pandya S, Westfield C, Fox DJ, Caspers Conway KM, Cunniff C, Mathews K, West N, Romitti PA, McDermott MP
J Pediatr Rehabil Med 2016;9(1):5-11. doi: 10.3233/PRM-160361. PMID: 26966795
Monforte M, Mercuri E, Laschena F, Ricci E, Tasca G
J Neurol Sci 2014 Dec 15;347(1-2):301-4. Epub 2014 Oct 22 doi: 10.1016/j.jns.2014.10.030. PMID: 25455304
Andrews JG, Davis MF, Meaney FJ
Muscle Nerve 2014 Jan;49(1):21-5. Epub 2013 Sep 11 doi: 10.1002/mus.23865. PMID: 23558904
Anthony K, Cirak S, Torelli S, Tasca G, Feng L, Arechavala-Gomeza V, Armaroli A, Guglieri M, Straathof CS, Verschuuren JJ, Aartsma-Rus A, Helderman-van den Enden P, Bushby K, Straub V, Sewry C, Ferlini A, Ricci E, Morgan JE, Muntoni F
Brain 2011 Dec;134(Pt 12):3547-59. Epub 2011 Nov 18 doi: 10.1093/brain/awr291. PMID: 22102647Free PMC Article
Holtzer C, Meaney FJ, Andrews J, Ciafaloni E, Fox DJ, James KA, Lu Z, Miller L, Pandya S, Ouyang L, Cunniff C
Genet Med 2011 Nov;13(11):942-7. doi: 10.1097/GIM.0b013e31822623f1. PMID: 21836521

Recent systematic reviews

Lager C, Kroksmark AK
Eur J Paediatr Neurol 2015 Sep;19(5):537-46. Epub 2015 Apr 30 doi: 10.1016/j.ejpn.2015.04.005. PMID: 25978940
Mah JK, Korngut L, Dykeman J, Day L, Pringsheim T, Jette N
Neuromuscul Disord 2014 Jun;24(6):482-91. Epub 2014 Mar 22 doi: 10.1016/j.nmd.2014.03.008. PMID: 24780148
Kaspar RW, Allen HD, Montanaro F
J Am Acad Nurse Pract 2009 May;21(5):241-9. doi: 10.1111/j.1745-7599.2009.00404.x. PMID: 19432907Free PMC Article
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
Hamed S, Sutherland-Smith A, Gorospe J, Kendrick-Jones J, Hoffman E
Clin Genet 2005 Jul;68(1):69-79. doi: 10.1111/j.1399-0004.2005.00455.x. PMID: 15952989

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