eMedicine Specialties > Physical Medicine and Rehabilitation > Muscular Dystrophy

Becker Muscular Dystrophy: Follow-up

Author: Benjamin R Mandac, MD, Chief of Physical Medicine and Rehabilitation, Medical Director of Pediatric Rehabilitation, Kaiser Permanente at Santa Clara
Contributor Information and Disclosures

Updated: Apr 18, 2008

Follow-up

Further Outpatient Care

  • Rehabilitation management coordinates the administration of appropriate therapeutic modalities.
    • The physiatrist initiates and coordinates diagnostic studies, because muscular dystrophy may not have been diagnosed in these patients prior to the initial visit.
    • Routine health care issues include the recommendation of yearly influenza vaccinations, as well as the administration of pneumococcal vaccine.
    • Given the progressive nature of the BMD, anticipatory guidance is ongoing. The physiatrist provides recommendations for classroom accommodations and activity during a patient's school years. Work-related concerns during the patient's adult years of employment are primary issues, with work modification scenarios and the use of assistive devices being prominent concerns.
  • Cardiopulmonary evaluations include pulmonary function and electrocardiographic testing.
    • Pulmonary evaluations are important in tracking the progression of muscular weakness affecting ventilation.
    • A simple clinical test with a spirometer may be employed to measure maximal expiratory volume during routine clinic visits.
    • A pattern of falling maximal expiratory volumes over time may indicates the need for formal pulmonary function to determine the need for ventilatory support.
    • Nighttime ventilatory support with a mask or nasal bilevel positive airway pressure is commonly used if a rising pCO2 is noted. The results from sleep studies also may suggest progressive difficulty in nighttime ventilation.
    • Cardiovascular health supervision guidelines are available9

Deterrence

  • Prenatal diagnosis is available for a woman with an at-risk pregnancy who has been identified as having a family history of muscular dystrophy. Identification of dystrophin gene exon deletions in a male fetus points to the risk of a child with muscular dystrophy. Couples may elect to terminate the pregnancy if the fetus is affected.
  • Carrier status may be determined in the mother and siblings of a proband.

Complications

  • Progressive disability
  • Dilated cardiomyopathy
  • Respiratory symptoms, with a potential need for ventilatory support
  • Joint contractures
  • Scoliosis
  • Dysphagia
  • Functional constipation

Prognosis

Patient Education

  • Well in advance of the projected necessity, discuss the decision, with the occurrence of pulmonary failure, to place a tracheostomy tube for positive-pressure ventilation, as well as for airway and secretion management. Inform the patient, family members, and/or caregivers of the implications of placing the patient on a ventilator. Early education can help the patient and his/her family to determine advanced directives.

Miscellaneous

Medicolegal Pitfalls

  • Pitfalls include a failure to advise at-risk parents and family members about BMD or to not offer evaluation by a geneticist. Disclose transmission risks, recurrence risks, and options if a prenatal diagnosis is performed.

Special Concerns

  • Be aware of the high risk of malignant hyperthermia that is associated with certain anesthetic agents. Consultation with an anesthesiologist is recommended prior to surgical procedures requiring anesthesia.
  • Dilated cardiomyopathy may be the initial presentation of BMD.
  • Because nonsteroidal anti-inflammatory medications can potentially worsen cardiac function, caution should be exercised with regard to their use.16
 


More on Becker Muscular Dystrophy

Overview: Becker Muscular Dystrophy
Differential Diagnoses & Workup: Becker Muscular Dystrophy
Treatment & Medication: Becker Muscular Dystrophy
Follow-up: Becker Muscular Dystrophy
References
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References

  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. Sep-Dec 1962;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. Jul 1994;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. Jan 2008;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. Jan 2008;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. Feb 1991;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. Oct 1989;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. May 10 2005;64(9):1635-7. [Medline].

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

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

  11. 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. Oct 11 2007;[Medline].

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

  13. 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].

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

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

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

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Further Reading

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Keywords

Becker muscular dystrophy, BMD, muscular dystrophy, X-linked dystrophinopathy, childhood muscular dystrophy, Duchenne muscular dystrophy, DMD, DMD-related dilated cardiomyopathy

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Contributor Information and Disclosures

Author

Benjamin R Mandac, MD, Chief of Physical Medicine and Rehabilitation, Medical Director of Pediatric Rehabilitation, Kaiser Permanente at Santa Clara
Benjamin R Mandac, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine and American Academy of Physical Medicine and Rehabilitation
Disclosure: Nothing to disclose.

Medical Editor

Elizabeth A Moberg-Wolff, MD, Associate Professor and Pediatric PM&R Fellowship Director, Department of Physical Medicine and Rehabilitation, Medical College of Wisconsin; Program Director, Tone Management and Mobility, Department of Physical Medicine and Rehabilitation, Children's Hospital of Wisconsin
Elizabeth A Moberg-Wolff, MD is a member of the following medical societies: American Academy of Cerebral Palsy and Developmental Medicine and American Academy of Physical Medicine and Rehabilitation
Disclosure: Medtronic Neurological Grant/research funds Speaking and teaching

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

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 and American Academy of Physical Medicine and Rehabilitation
Disclosure: Nothing to disclose.

CME Editor

Kelly L Allen, MD, Consulting Staff, Department of Physical Medicine and Rehabilitation, Lourdes Regional Rehabilitation Center, Our Lady of Lourdes Medical Center
Disclosure: Nothing to disclose.

Chief Editor

Denise I Campagnolo, MD, MS, Director of Multiple Sclerosis Clinical Research and Staff Physiatrist, Barrow Neurology Clinics, St. Joseph's Hospital and Medical Center; Investigator for Barrow Neurology Clinics; Director, NARCOMS Project for Consortium of MS Centers, Phoenix
Denise I Campagnolo, MD, MS is a member of the following medical societies: Alpha Omega Alpha, American Association of Neuromuscular and Electrodiagnostic Medicine, American Paraplegia Society, Association of Academic Physiatrists, and Consortium of Multiple Sclerosis Centers
Disclosure: Teva Neuroscience Honoraria Speaking and teaching; Serono-Pfizer Honoraria Speaking and teaching

 
 
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