Becker's muscular dystrophy

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Moises Romo, M.D.

Overview

Former "pseudohypertrophic muscular dystrophy", now Becker's muscular dystrophy, is a genetic neuromuscular condition characterized by slowly progresive weakness and atrophy of skeletal (mostly legs and pelvis) and cardiac muscles.

Historical Perspective

Pathophysiology

Clinical Features

Unlike Duchenne muscular dystrophy, Becker's muscular dystrophy (BMD) phenotype presents at a later age, widely variable onset from early childhood to late adulthood, most of them falling in puberty range. Most of the patients will requiere a wheelchair after age 16.[12]

Clinical presentation Becker's muscular dystrophy include:

There is an abcense of fasciculations, and this finding may exclude BMD[13][14]

CNS is rarely afected in Becker's muscular dystrophy, for this reason, intelligence is usually spared.[12][17]

Most of women are asymptomatic carriers, with very rare cases presenting the classic symptoms.[12][9]

Differentiating Becker's muscular dystrophy from other Diseases

Becker's muscular dystrophy must be differentiated from other diseases that cause skelletal and cardiac muscle afection, such as:

Screening


Epidemiology and Demographics

  • The prevalence of Becker's muscular dystrophy is approximately 1-3 per 100,000 individuals.
  • The incidence of Becker's muscular dystrophy is approximately 3-6 per 100,000 male births worldwide.

Age

Becker's muscular dystrophy is diagnosed in 85% of patients by age 25.[21]

Gender

Becker's muscular dystrophy affects mostly men, women are carriers almost exclusively (except rare situation).[22]

Race

  • Becker's muscular dystrophy usually affects individuals of the hispanic race.[23][24]
  • Asian individuals are less likely to develop Becker's muscular dystrophy.[23][24]

Risk Factors

Natural History, Complications and Prognosis


Diagnosis

The diagnosis of Becker's muscular dystrophy is made with a classic clinical presentation plus elevated CK, molecular genetic testing, or muscle biopsy.[33]

Symptoms

Symptoms of Becker's muscular dystrophy may include the following:

Physical Examination

Patients with Becker's muscular dystrophy usually adopt a posture with shoulders held back, abdomen stuck out, and lumbar hyperlordosis.[34]

Physical examination may be remarkable for:

Laboratory Findings

An elevated CK is typical in Becker's muscular dystrophy, with a peak around 10-15 years of age.[35]

Other laboratory findings consistent with Becker's muscular dystrophy may be:

Hystopathology

Histologic findings in Becker's muscular may be:

EMG

EMG in Becker's muscular dystrophy, may reveal myopathic motor units with or without muscle membrane instability.[35][38]

Echocardiography

Echocardiogram should be done at the time of diagnosis.[38][39]

Imaging Findings

There are no X-ray findings characteristic with with Becker's muscular dystrophy, but scoliosis may be found.[34]

Treatment

Medical Therapy

Surgery

Primary Prevention

There are no primary preventive measures available for Becker's muscular dystrophy.[31]

Secondary Prevention

Template:Muscular Dystrophy

References


==References== 

{{Reflist|2}}

  1. Zeidman LA, Kondziella D (April 2014). "Peter Becker and his Nazi past: the man behind Becker muscular dystrophy and Becker myotonia". J. Child Neurol. 29 (4): 514–9. doi:10.1177/0883073813482773. PMID 23576413.
  2. "Guillaume Benjamin Amand Duchenne de Boulogne".
  3. Mercuri E, Bönnemann CG, Muntoni F (November 2019). "Muscular dystrophies". Lancet. 394 (10213): 2025–2038. doi:10.1016/S0140-6736(19)32910-1. PMID 31789220.
  4. 4.0 4.1 Hoffman, Eric P.; Brown, Robert H.; Kunkel, Louis M. (1987). "Dystrophin: The protein product of the duchenne muscular dystrophy locus". Cell. 51 (6): 919–928. doi:10.1016/0092-8674(87)90579-4. ISSN 0092-8674.
  5. 5.0 5.1 5.2 5.3 5.4 5.5 Sarkozy, A.; Bushby, K.; Mercuri, E. (2014). "Muscular Dystrophies". doi:10.1016/B978-0-12-801238-3.05597-5.
  6. "Becker muscular dystrophy | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
  7. 7.0 7.1 Wicklund MP (December 2013). "The muscular dystrophies". Continuum (Minneap Minn). 19 (6 Muscle Disease): 1535–70. doi:10.1212/01.CON.0000440659.41675.8b. PMID 24305447.
  8. Iannaccone, Susan T.; Castro, Diana (2013). "Congenital Muscular Dystrophies and Congenital Myopathies". CONTINUUM: Lifelong Learning in Neurology. 19: 1509–1534. doi:10.1212/01.CON.0000440658.03557.f1. ISSN 1080-2371.
  9. 9.0 9.1 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Darras BT, Urion DK, Ghosh PS. PMID 20301298. Vancouver style error: initials (help); Missing or empty |title= (help)
  10. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Darras BT, Urion DK, Ghosh PS. PMID 20301298. Vancouver style error: initials (help); Missing or empty |title= (help)
  11. 12.0 12.1 12.2 12.3 12.4 12.5 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Darras BT, Urion DK, Ghosh PS. PMID 20301298. Vancouver style error: initials (help); Missing or empty |title= (help)
  12. 13.0 13.1 13.2 Sarkozy, A.; Bushby, K.; Mercuri, E. (2014). "Muscular Dystrophies". doi:10.1016/B978-0-12-801238-3.05597-5.
  13. 14.0 14.1 14.2 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Darras BT, Urion DK, Ghosh PS. PMID 20301298. Vancouver style error: initials (help); Missing or empty |title= (help)
  14. 15.0 15.1 Wicklund MP (December 2013). "The muscular dystrophies". Continuum (Minneap Minn). 19 (6 Muscle Disease): 1535–70. doi:10.1212/01.CON.0000440659.41675.8b. PMID 24305447.
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  16. Sarkozy, A.; Bushby, K.; Mercuri, E. (2014). "Muscular Dystrophies". doi:10.1016/B978-0-12-801238-3.05597-5.
  17. 18.0 18.1 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Darras BT, Urion DK, Ghosh PS. PMID 20301298. Vancouver style error: initials (help); Missing or empty |title= (help)
  18. 19.0 19.1 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Darras BT, Urion DK, Ghosh PS. PMID 20301298. Vancouver style error: initials (help); Missing or empty |title= (help)
  19. 20.0 20.1 Deburgrave N, Daoud F, Llense S, Barbot JC, Récan D, Peccate C, Burghes AH, Béroud C, Garcia L, Kaplan JC, Chelly J, Leturcq F (February 2007). "Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene". Hum. Mutat. 28 (2): 183–95. doi:10.1002/humu.20422. PMID 17041906.
  20. Bushby KM, Thambyayah M, Gardner-Medwin D (April 1991). "Prevalence and incidence of Becker muscular dystrophy". Lancet. 337 (8748): 1022–4. doi:10.1016/0140-6736(91)92671-n. PMID 1673177.
  21. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Darras BT, Urion DK, Ghosh PS. PMID 20301298. Vancouver style error: initials (help); Missing or empty |title= (help)
  22. 23.0 23.1 "Prevalence of Duchenne / Becker Muscular Dystrophies | CDC".
  23. 24.0 24.1 "Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24 years - four states, 2007". MMWR Morb. Mortal. Wkly. Rep. 58 (40): 1119–22. October 2009. PMID 19834452.
  24. "Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24 years - four states, 2007". MMWR Morb. Mortal. Wkly. Rep. 58 (40): 1119–22. October 2009. PMID 19834452.
  25. Barakat-Haddad C, Shin S, Candundo H, Lieshout PV, Martino R (July 2017). "A systematic review of risk factors associated with muscular dystrophies". Neurotoxicology. 61: 55–62. doi:10.1016/j.neuro.2016.03.007. PMID 27018093.
  26. 27.0 27.1 Emery AE, Skinner R (October 1976). "Clinical studies in benign (Becker type) X-linked muscular dystrophy". Clin. Genet. 10 (4): 189–201. doi:10.1111/j.1399-0004.1976.tb00033.x. PMID 975594.
  27. 28.0 28.1 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Darras BT, Urion DK, Ghosh PS. PMID 20301298. Vancouver style error: initials (help); Missing or empty |title= (help)
  28. 29.0 29.1 29.2 29.3 29.4 Passamano L, Taglia A, Palladino A, Viggiano E, D'Ambrosio P, Scutifero M, Rosaria Cecio M, Torre V, DE Luca F, Picillo E, Paciello O, Piluso G, Nigro G, Politano L (October 2012). "Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients". Acta Myol. 31 (2): 121–5. PMC 3476854. PMID 23097603.
  29. 30.00 30.01 30.02 30.03 30.04 30.05 30.06 30.07 30.08 30.09 30.10 30.11 "www.mda.org" (PDF).
  30. 31.0 31.1 31.2 31.3 31.4 "Pathology Outlines - Becker muscular dystrophy".
  31. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Darras BT, Urion DK, Ghosh PS. PMID 20301298. Vancouver style error: initials (help); Missing or empty |title= (help)
  32. 33.0 33.1 33.2 33.3 33.4 33.5 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Darras BT, Urion DK, Ghosh PS. PMID 20301298. Vancouver style error: initials (help); Missing or empty |title= (help)
  33. 34.0 34.1 Smith AD, Koreska J, Moseley CF (August 1989). "Progression of scoliosis in Duchenne muscular dystrophy". J Bone Joint Surg Am. 71 (7): 1066–74. PMID 2760082.
  34. 35.0 35.1 35.2 Wicklund MP (December 2013). "The muscular dystrophies". Continuum (Minneap Minn). 19 (6 Muscle Disease): 1535–70. doi:10.1212/01.CON.0000440659.41675.8b. PMID 24305447.
  35. Deburgrave N, Daoud F, Llense S, Barbot JC, Récan D, Peccate C, Burghes AH, Béroud C, Garcia L, Kaplan JC, Chelly J, Leturcq F (February 2007). "Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene". Hum. Mutat. 28 (2): 183–95. doi:10.1002/humu.20422. PMID 17041906.
  36. Lee SH, Lee JH, Lee KA, Choi YC (July 2015). "Clinical and Genetic Characterization of Female Dystrophinopathy". J Clin Neurol. 11 (3): 248–51. doi:10.3988/jcn.2015.11.3.248. PMC 4507379. PMID 26022459.
  37. 38.0 38.1 Naddaf E, Milone M, Mauermann ML, Mandrekar J, Litchy WJ (2018). "Muscle Biopsy and Electromyography Correlation". Front Neurol. 9: 839. doi:10.3389/fneur.2018.00839. PMC 6189315. PMID 30356714.
  38. 39.0 39.1 39.2 39.3 39.4 39.5 39.6 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Darras BT, Urion DK, Ghosh PS. PMID 20301298. Vancouver style error: initials (help); Missing or empty |title= (help)
  39. 40.0 40.1 Sarkozy, A.; Bushby, K.; Mercuri, E. (2014). "Muscular Dystrophies". doi:10.1016/B978-0-12-801238-3.05597-5.