Spinal Muscular Atrophy Treatment & Management

  • Author: Bryan Tsao, MD; Chief Editor: Amy Kao, MD   more...
 
Updated: Mar 8, 2011
 

Medical Care

The first report of in vivo activation of SMN2 by valproic acid in 2006 led to a clinical study of 7 patients with genetically-confirmed SMA type III/IV.[34, 35] The results of the clinical trial are summarized as follows:

  • This was an open-label retrospective trial with examiners blinded to prior strength testing. Patient age ranged from 17-45 years with a mean age of 33 years.
  • Duration of treatment was 8 months at a dose of valproic acid 250 mg twice a day, which was then increased to 500 mg twice a day after 3 months, as tolerated.
  • Treated patients were found to have a mean increase in quantitative muscle strength of 16% compared with normal strength and 48% compared with pretreatment values. Functional benefit was present in 6 of 7 patients; only 1 did not experience any improvement.
  • Follow-up at 1 year showed sustained benefit. The onset of improvement was surprisingly quick, reported within a few months in most with initiation of valproic acid.
  • Common adverse effects included initial sedation and an average weight gain of 5 lb.
  • Larger controlled studies are underway.

A randomized, double-blind, placebo-controlled trial in male subjects with genetically confirmed spinobulbar muscular atrophy (Kennedy disease) using oral dutasteride (a 5-alpha-reductase inhibitor that reduces dihydrotestosterone) did not show a significant effect on the progression of muscle weakness.[36] Failure of this treatment trial in spinobulbar muscular atrophy may in part be attributed to the underpowered study and the relatively short period in which treatment effect can be accurately measured because of the slowly progressive nature of this disease. These results also suggest that the role of androgens in spinobulbar muscular atrophy is complex.

Supportive treatment should be aimed at improving the patients' quality of life and minimizing disability, particularly in patients with slow progression.

The treatment of patients with adult-onset spinal muscular atrophy is similar to that for amyotrophic lateral sclerosis (ALS), except that the course and life span in spinal muscular atrophies is considerably longer.

A multidisciplinary approach is essential and encompasses physical, occupational, speech, and respiratory therapies.

The use of splints, bracing, and spinal orthoses can be customized to each patient.[37]

The goals are to maximize the patient's independence and quality of life at each stage of the disease.

Specific pharmacologic therapy is not available.

Gene-specific therapy is not yet available.

Patients and families can also be directed to ongoing clinical trials for the treatment of spinal muscular atrophies. Descriptions of various trials can be found at the following Web sites:

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Surgical Care

  • Surgical revision may provide stable correction of the spine, and early orthopedic intervention may be indicated in patients in whom prolonged survival is anticipated.
  • Noninvasive ventilation and percutaneous gastrostomy reportedly improves the quality of life with no effect on survival. These modalities may be most effective in prolonging lifespan in patients with slowly progressive disease, whereas they may provide comfort care in rapidly progressive infantile forms.[38]
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Consultations

Consultations for ancillary evaluations and treatments are appropriate. Consult the following specialists as needed: physical therapist, occupational therapist, speech therapist, dietary or nutritional therapist, social service staff, pulmonologist, and gastroenterologist.

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Diet

Ensuring optimal caloric intake enables patients to use weak muscles to their maximum capacity without incurring obesity as a comorbid condition.

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Activity

  • Encourage mobility. The goal of active but nonfatiguing exercises is to maintain range of motion, increase muscle flexibility, and prevent contractures. These exercises should not produce pain or exhaustion.
  • Preventing spinal deformities (eg, scoliosis) and joint contractures is important. This goal is accomplished by using range-of-motion exercises, knee-ankle-foot orthoses, specialized wheelchairs and seats at home and school, and home assistance devices.
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Contributor Information and Disclosures
Author

Bryan Tsao, MD  Associate Professor, Department of Neurology, Loma Linda University; Chair and Service Chief, Department of Neurology, Loma Linda University Medical Center

Bryan Tsao, MD is a member of the following medical societies: American Academy of Neurology

Disclosure: Nothing to disclose.

Coauthor(s)

Carmel Armon, MD, MSc, MHS  Professor of Neurology, Tufts University School of Medicine; Chief, Division of Neurology, Baystate Medical Center

Carmel Armon, MD, MSc, MHS is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, American Association of Neuromuscular and Electrodiagnostic Medicine, American Clinical Neurophysiology Society, American College of Physicians, American Epilepsy Society, American Medical Association, American Neurological Association, American Stroke Association, Massachusetts Medical Society, Movement Disorders Society, and Sigma Xi

Disclosure: Avanir Pharmaceuticals Consulting fee Consulting

Specialty Editor Board

Robert J Baumann, MD  Professor of Neurology and Pediatrics, Department of Neurology, University of Kentucky College of Medicine

Robert J Baumann, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, and Child Neurology Society

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Senior Pharmacy Editor, eMedicine

Disclosure: eMedicine Salary Employment

Kenneth J Mack, MD, PhD  Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic

Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, and Society for Neuroscience

Disclosure: Nothing to disclose.

Selim R Benbadis, MD  Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, Tampa General Hospital, University of South Florida College of Medicine

Selim R Benbadis, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, American Clinical Neurophysiology Society, American Epilepsy Society, and American Medical Association

Disclosure: UCB Pharma Honoraria Speaking, consulting; Lundbeck Honoraria Speaking, consulting; Cyberonics Honoraria Speaking, consulting; Glaxo Smith Kline Honoraria Speaking, consulting; Pfizer Honoraria Speaking, consulting; Sleepmed/DigiTrace Honoraria Speaking, consulting

Chief Editor

Amy Kao, MD  Attending Neurologist, Children's National Medical Center, Washington DC

Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, and Child Neurology Society

Disclosure: Nothing to disclose.

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