Spinal Muscular Atrophy Follow-up

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

Deterrence/Prevention

  • Genetic counseling should be offered to all families of patients with spinal muscular atrophy. Obtaining a complete family history facilitates genetic counseling.
  • Education on how the disease is inherited may avert conception of affected individuals.
  • Furthermore, the role of prenatal diagnosis, particularly in pregnant carriers or those with juvenile or adult-onset forms, should also be addressed.
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Complications

Medical complications associated with the SMAs include pulmonary infections, spinal deformities (eg, scoliosis), joint contractures, and respiratory failure.

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Prognosis

See Mortality/Morbidity for more information.

Most patients with SMA type I die before 18 months of age. In contrast, outcomes of juvenile and adult spinal muscular atrophies are difficult to define because the progression of these diseases varies widely.

Survival probabilities for types I and II and probabilities of being ambulatory for type III were derived for 445 patients. These patients were subdivided on the basis of ISMAC criteria (ie, developmental milestones and age of onset).[39]

  • SMA I: Survival probabilities at ages 2, 4, 10, and 20 years were 32%, 18%, 8%, and 0%, respectively.
  • SMA II: Survival probabilities at ages 2, 4, 10, and 20 years were 100%, 100%, 98%, and 77%, respectively.
  • SMA III: Results differed. Onset before age 3 years: Probabilities of being ambulatory at ages 2, 4, 10, 20, and 40 years were 98%, 94.5%, 73%, 44%, and 34%, respectively. Onset after age 3 years: Probabilities of being ambulatory at ages 2, 4, 10, 20, and 40 years were 100%, 100%, 97%, 89%, and 67%, respectively.

The life expectancy of patients with SMA type III is close to that of the healthy population. Antibiotic treatment has not prolonged survival in SMA type I. Birnkrant examined the role of noninvasive positive-pressure ventilation and gastrostomy in patients with SMA type I. Although these supportive measures can be effective in slowly progressive neuromuscular diseases, they did not alter survival in patients with SMA type I.[38]

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Patient Education

Normal schooling in patients with SMA, especially types II and II or more indolent forms, is highly recommended because their intelligence is normal or even superior to that of other individuals.

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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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