Medscape is available in 5 Language Editions – Choose your Edition here.


Becker Muscular Dystrophy Workup

  • Author: Benjamin R Mandac, MD, MD; Chief Editor: Stephen Kishner, MD, MHA  more...
Updated: Sep 03, 2015

Laboratory Studies


After a thorough history has been taken and a physical examination has been performed, a diagnosis of BMD may be confirmed with the following lab study sequence:

  • Serum creatine kinase shows moderate-to-severe elevation (that is, 5-100 times the normal level)
  • Dystrophin gene deletion analysis shows specific exon deletions in about 98% of cases; test methods include the multiplex polymerase chain reaction, southern blot analysis, and fluorescent in situ hybridization
  • Muscle biopsy with dystrophin antibody staining demonstrates the presence of dystrophin in variable percentages; this may be helpful in the young child with no maternal history

A study by Zhang et al indicated that serum creatinine levels are significantly higher in patients with BMD than in those with DMD. The study was conducted using biochemical and genetic data, as well as Vignos scale scores (used to assess motor function), from 212 boys with dystrophinopathy.[16]

Laboratory evaluation is generally confirmatory of BMD if the patient possesses a phenotype that is consistent with muscular dystrophy and has a family history of the Becker form of the disease. Laboratory and phenotypic expression confirm sporadic cases. A clinical picture of muscular dystrophy, coupled with a preserved ambulatory status beyond age 16 years, is consistent with a diagnosis of BMD.

Genetic testing and next-generation sequencing technology may aid in diagnosis.[17, 18]  Other laboratory studies that may be indicated include the following:

  • Liver function screen for aspartate transaminase and alanine transaminase
  • Muscle biopsy
  • Standard histology

Imaging Studies

See the list below:

  • Spinal radiographs may be performed to follow the progression of scoliosis, particularly during adolescence.

Other Tests

See the list below:

  • Electromyography may be indicated. [19]
    • Expect normal nerve conduction with possible borderline-to-low motor evoked responses.
    • Expect increased insertional activity with myopathic motor unit action potentials (ie, short duration, low-to-normal amplitude, rapid recruitment, decreased units).
    • An electrodiagnostic study will facilitate a distinction between a muscular and a primary nerve process (eg, anterior horn cell disease, hereditary polyneuropathies).
    • Electromyography also may assist in identifying which muscle groups would be optimal for biopsy.
  • An electrocardiogram/echocardiogram may show cardiomyopathy and/or arrhythmia. Dilated cardiomyopathy manifests after age 20 years; the risk progressively increases with age.
  • Pulmonary function testing may reveal bellows failure caused by progressive weakness.
  • Associated restrictive disease may be seen with scoliosis or a poorly compliant chest.

Histologic Findings

Standard muscle biopsy alone does not support a diagnosis of BMD. Histologic changes — specifically, findings of degenerating muscle fibers, a variation in fiber size, focal necrosis, regeneration, and a proliferation of connective tissue, as well as fatty replacement of degenerated muscles — point to a muscular dystrophy.

Contributor Information and Disclosures

Benjamin R Mandac, MD, MD Chief Physical Medicine and Rehabilitation, Medical Director Pediatric Rehabilitation Kaiser Permanente at Santa Clara

Benjamin R Mandac, MD, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Physical Medicine and Rehabilitation

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Kat Kolaski, MD Assistant Professor, Departments of Orthopedic Surgery and Pediatrics, Wake Forest University School of Medicine

Kat Kolaski, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Physical Medicine and Rehabilitation

Disclosure: Nothing to disclose.

Chief Editor

Stephen Kishner, MD, MHA Professor of Clinical Medicine, Physical Medicine and Rehabilitation Residency Program Director, Louisiana State University School of Medicine in New Orleans

Stephen Kishner, MD, MHA is a member of the following medical societies: American Academy of Physical Medicine and Rehabilitation, American Association of Neuromuscular and Electrodiagnostic Medicine

Disclosure: Nothing to disclose.

Additional Contributors

Elizabeth A Moberg-Wolff, MD Medical Director, Pediatric Rehabilitation Medicine Associates

Elizabeth A Moberg-Wolff, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Physical Medicine and Rehabilitation

Disclosure: Nothing to disclose.

  1. Becker PE, Kiener F. [A new x-chromosomal muscular dystrophy.]. Arch Psychiatr Nervenkr Z Gesamte Neurol Psychiatr. 1955. 193(4):427-48. [Medline].

  2. Becker PE. Two families of benign sex-linked recessive muscular dystrophy. Rev Can Biol. 1962 Sep-Dec. 21:551-66. [Medline].

  3. Angelini C, Fanin M, Pegoraro E, et al. Clinical-molecular correlation in 104 mild X-linked muscular dystrophy patients: characterization of sub-clinical phenotypes. Neuromuscul Disord. 1994 Jul. 4(4):349-58. [Medline].

  4. Gurvich OL, Tuohy TM, Howard MT, et al. DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy. Ann Neurol. 2008 Jan. 63(1):81-9. [Medline].

  5. Ashton EJ, Yau SC, Deans ZC, et al. Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene. Eur J Hum Genet. 2008 Jan. 16(1):53-61. [Medline].

  6. Arahata K, Beggs AH, Honda H, et al. Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy. J Neurol Sci. 1991 Feb. 101(2):148-56. [Medline].

  7. Koenig M, Beggs AH, Moyer M, et al. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet. 1989 Oct. 45(4):498-506. [Medline]. [Full Text].

  8. Schwartz M, Hertz JM, Sveen ML, et al. LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype. Neurology. 2005 May 10. 64(9):1635-7. [Medline].

  9. Cirak S, Feng L, Anthony K, Arechavala-Gomeza V, Torelli S, Sewry C, et al. Restoration of the Dystrophin-associated Glycoprotein Complex After Exon Skipping Therapy in Duchenne Muscular Dystrophy. Mol Ther. 2011 Nov 15. [Medline].

  10. Mavrogeni S, Markousis-Mavrogenis G, Papavasiliou A, Kolovou G. Cardiac involvement in Duchenne and Becker muscular dystrophy. World J Cardiol. 2015 Jul 26. 7 (7):410-4. [Medline].

  11. Nicolas A, Raguenes-Nicol C, Ben Yaou R, et al. Becker muscular dystrophy severity is linked to the structure of dystrophin. Hum Mol Genet. 2015 Mar 1. 24 (5):1267-79. [Medline].

  12. Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. Pediatrics. 2005 Dec. 116(6):1569-73. [Medline]. [Full Text].

  13. Emery AE, Skinner R. Clinical studies in benign (Becker type) X-linked muscular dystrophy. Clin Genet. 1976 Oct. 10(4):189-201. [Medline].

  14. Holloway SM, Wilcox DE, Wilcox A, et al. Life expectancy and death from cardiomyopathy amongst carriers of Duchenne and Becker muscular dystrophy in Scotland. Heart. 2007 Oct 11. [Medline].

  15. Young HK, Barton BA, Waisbren S, et al. Cognitive and Psychological Profile of Males With Becker Muscular Dystrophy. J Child Neurol. 2007 Dec 3. [Medline].

  16. Zhang H, Zhu Y, Sun Y, et al. Serum creatinine level: a supplemental index to distinguish Duchenne muscular dystrophy from Becker muscular dystrophy. Dis Markers. 2015. 2015:141856. [Medline].

  17. Menezes MP, North KN. Inherited neuromuscular disorders: Pathway to diagnosis. J Paediatr Child Health. 2011 Nov 3. [Medline].

  18. Lim BC, Lee S, Shin JY, Kim JI, Hwang H, Kim KJ, et al. Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform. J Med Genet. 2011 Nov. 48(11):731-6. [Medline].

  19. Rutkove SB, Darras BT. Electrical impedance myography for the assessment of children with muscular dystrophy: a preliminary study. J Phys Conf Ser. 2013. 434(1):[Medline]. [Full Text].

  20. Grootenhuis MA, de Boone J, van der Kooi AJ. Living with muscular dystrophy: health related quality of life consequences for children and adults. Health Qual Life Outcomes. 2007. 5:31. [Medline]. [Full Text].

  21. Hayes J, Veyckemans F, Bissonnette B. Duchenne muscular dystrophy: an old anesthesia problem revisited. Paediatr Anaesth. 2008 Feb. 18(2):100-6. [Medline].

  22. Segura LG, Lorenz JD, Weingarten TN, Scavonetto F, Bojanic K, Selcen D, et al. Anesthesia and Duchenne or Becker muscular dystrophy: review of 117 anesthetic exposures. Paediatr Anaesth. 2013 Sep. 23(9):855-64. [Medline].

  23. Jenkins HM, Stocki A, Kriellaars D, Pasterkamp H. Breath stacking in children with neuromuscular disorders. Pediatr Pulmonol. 2013 Aug 16. [Medline].

  24. Pouwels S, de Boer A, Leufkens HG, Weber WE, Cooper C, van Onzenoort HA, et al. Risk of fracture in patients with muscular dystrophies. Osteoporos Int. 2013 Aug 15. [Medline].

  25. Duan D. Myodys, a full-length dystrophin plasmid vector for Duchenne and Becker muscular dystrophy gene therapy. Curr Opin Mol Ther. 2008 Feb. 10(1):86-94. [Medline].

  26. Bowles DE, McPhee SW, Li C, Gray SJ, Samulski JJ, Camp AS, et al. Phase 1 Gene Therapy for Duchenne Muscular Dystrophy Using a Translational Optimized AAV Vector. Mol Ther. 2011 Nov 8. [Medline].

  27. Stöllberger C, Finsterer J. Worsening of heart failure in Becker muscular dystrophy after nonsteroidal anti-inflammatory drugs. South Med J. 2005 Apr. 98(4):478-80. [Medline].

  28. King WM, Kissel JT, Visy D, Goel PK, Matkovic V. Skeletal health in duchenne dystrophy: Bone-size and subcranial DXA analyses. Muscle Nerve. 2013 Jul 24. [Medline].

All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.