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}}

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  2. "Guillaume Benjamin Amand Duchenne de Boulogne".<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  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.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
  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.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
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  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.<templatestyles src="Module:Citation/CS1/styles.css"></templatestyles>
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