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Becker Muscular Dystrophy Treatment & Management

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

Rehabilitation Program

Physical Therapy

The role of physical therapy services is to address the functional needs of the patient as the disease progresses. Early interventions may focus on stretching tight muscles (which may initially be the only therapy goal). As the patient's weakness progresses, appropriate equipment and assistive devices will be required to enable the individual to maintain functional mobility and independence in daily living activities. Educational objectives include teaching the patient techniques for energy conservation, joint protection, and the prevention of overuse fatigue.

Occupational Therapy

Activities of daily living skills are addressed, depending on the level of impairments, in occupational therapy. Specific adaptations (to aid, for instance, dressing and bathroom skills) may be provided. Such adaptations range from methods of buttoning and zippering clothes to grab bars and raised toilet seats in the bathroom. Mobility concerns are addressed, including the need for devices to assist with mobility, such as a scooter or a fully adapted wheelchair with a custom seat and back, custom supports, and electric power.[20]

Speech Therapy

Dysphagia concerns may be evaluated by a speech therapist. Progressive weakness toward the end of the disease process may lead to dysphagia and an increased risk of aspiration pneumonia. Clinical evaluation may result in the recommendation to avoid specific food textures and liquid viscosities, as well as to avoid certain positions during feeding. Videofluoroscopic evaluation may be performed to demonstrate the risk of aspiration.

Recreational Therapy

Specific planning for avocational needs and desires may be coordinated with a recreational therapist. Resources within the community, such as activity programs with the local parks and recreation department, may be explored. Educational institutions, from public schools to community colleges and universities, may have resources that can be utilized. Adaptive physical education programs and disabled student services are generally available for qualified individuals. Access and mobility concerns in the community invariably touch upon the adjustment issues faced by individuals with a progressive disability.

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Medical Issues/Complications

Potential complications of BMD include progressive weakness that results in orthopedic deformity and medical emergencies for cardiac and respiratory symptoms. Swallowing-related complications, from difficulties with mastication to problems in the pharyngeal phases, may arise with progressive weakness of the swallow mechanism. Recurrent aspiration pneumonias from progressive dysphagia may eventually cause mortality. The progressive loss of safe swallowing may result in the need for gastrostomy tube placement. Constipation may be an associated problem, given poor fluid intake and progressive difficulty with commode transfers. Overuse syndromes may lead to complaints of muscle pain, prolonged fatigue, and myoglobinuria.

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Surgical Intervention

Progressive scoliosis and contracture formation may require surgical intervention. Spinal fusion to correct scoliosis may be scheduled based on the progression of spinal deformity and the age of the patient. Ankle contractures may be corrected with appropriate heel cord release and lengthening. Muscle transfers, such as with the posterior tibialis muscle, also may be considered to preserve functional mobility.

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Consultations

Subspecialty consultations depend on the patient's specific needs as related to the disorder. Appropriate consultations may include the following:

  • Anesthesiologist - Preoperative management and planning for appropriate anesthesia are key reasons for consultation with an anesthesiologist. The risk of malignant hyperthermia is significant, given the intrinsic muscle disorder. Appropriate cautions must be taken to avoid medications that may precipitate malignant hyperthermia. [21, 22] Dantrolene sodium is probably the best medication to use if malignant hyperthermia arises.
  • Cardiologist - Cardiac function requires ongoing follow-up care. Symptomatic patients with significant cardiomyopathy have undergone transplantation procedures.
  • Pulmonologist - The need for management of pulmonary problems associated with muscle weakness and restrictive disease is a typical indication. [23] Formal pulmonary function testing may be used for preoperative care, as well as for the determination of need for ventilatory support.
  • Orthopedist - The need for management of scoliosis and joint contractures are major indications for consultation with an orthopedist. [24] The period around puberty is generally the time for significant change in scoliosis, especially if the patient's ambulatory status is limited. Heel cord release is a commonly performed joint contracture procedure.
  • Geneticist - Consultation regarding the carrier status of the patient's mother and siblings is important. Transmission risk to offspring should be discussed. Identifying mosaicism in the mother or father, as well as determining the risk of transmission, is another topic to consider in nonheterozygote carrier families or in isolated cases.
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Other Treatment

Because no cure exists for BMD, treatment is focused on controlling a patient's symptoms. Weakness progresses, and emergencies related to cardiac and respiratory symptoms are hallmarks of advance in the disease process. Possible future treatments for BMD include the following:

  • Gene therapy may eventually lead to effective treatment, given proper identification of the gene defect and effective administration of the corrective gene to the muscle targets. [25, 26]
  • Myoblast treatment, as well as the use of stem cells, also may be alternative modalities if proven successful.
  • Steroids have been reported to show benefit in patients with DMD, but there are conflicting reports. No definitive evidence demonstrates that steroids are effective against BMD.
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Contributor Information and Disclosures
Author

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.

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