eMedicine Specialties > Orthopedic Surgery > Spine

Spinal Muscle Atrophy: Treatment & Medication

Author: Jose A Herrera-Soto, MD, Assistant Program Director of Pediatric Orthopedic Fellowship, Orlando Regional Healthcare
Coauthor(s): Alvin H Crawford, MD, FACS, Professor of Pediatrics and Orthopedic Surgery, University of Cincinnati College of Medicine; Director, Division of Pediatric Orthopedic Surgery, Department of Orthopedic Surgery, Cincinnati Children's Hospital Medical Center; Charles T Mehlman, DO, MPH, Director, Musculoskeletal Outcomes Research, Associate Professor, Division of Pediatric Orthopedic Surgery, Cincinnati Children's Hospital Medical Center
Contributor Information and Disclosures

Updated: Aug 21, 2008

Treatment

Medical Care

Patients with type I spinal muscle atrophy (spinal muscular atrophy, SMA) require little, if any, involvement of an orthopedist due to their short life span. Splinting is used for fractures. For patients with type II and type III SMA, physical therapy may be employed for contractures. See Surgical Care below for an in-depth discussion of treatment of contractures.22

Surgical Care

  • Posterior spinal fusion and segmental instrumentation: The most common orthopedic problem is scoliosis, which is often severe. It is universal in nonambulatory patients. Their curve progression is about 8° per year, despite brace treatment. Half of ambulatory patients develop scoliosis as well, but at a slower rate of progression.
    • Posterior spinal fusion with segmental instrumentation is indicated in young patients whose curve cannot be controlled with a brace and in patients older than 10 years with curves greater than 40° with forced vital capacities 40% above normal levels. The entire thoracic and lumbar spine down to the pelvis should be fused in order to obtain a balanced trunk and a leveled pelvis. Concomitant anterior spinal fusion to prevent crankshaft phenomenon is usually avoided, as the risk of potential problems of anterior spinal surgery in a patient with SMA outweighs the benefits.
    • In ambulatory patients, spinal surgery that excludes the pelvis is preferred. A compensatory lumbar lordosis and pelvic motion has been observed to compensate for the proximal motor weakness in these patients. The ambulatory capacity of some of these patients may be lost following surgery. Surgery should be delayed as long as medically possible; remember that curve progression is slower in patients with type III spinal muscle atrophy (spinal muscular atrophy, SMA), and these patients present later in life. However, when necessary, surgery should be performed while the patient is still ambulatory. This is in contrast to the preferred timing for surgery in patients with Duchenne muscular dystrophy.
  • Physical therapy or surgery for contractures: Joint flexion contractures of the hips and knees are associated with nonambulatory status. Surgical releases are performed, as the rate of recurrence is extremely high, especially in sitting patients. Equinus is occasionally present. Ambulatory patients rarely have equinus or cavovarus deformities. Surgical releases are rarely needed for patients with type II or III SMA, as the loss of function is due to weakness and not contractures. Some form of tendon transfer may be needed in patients with type III SMA to correct foot or ankle functional defects.
  • Pelvic stabilization procedures: Hip subluxations or dislocations are due to proximal musculature weakness that leads to coxa valga and loss of femoral head coverage. Half of ambulatory patients have hip pathology. Unilateral dislocation in nonambulatory patients invariably leads to pelvic obliquity (which may be manifested in uneven sitting pressure sores). Hip reconstruction may be successful, but recurrence of the problem even after surgical stabilization is a concern. Therefore, surgical correction is not indicated in most patients, and treatment remains controversial.

Consultations

  • Pneumologist: A preoperative pneumology consultation for pulmonary function tests (PFTs) is necessary. Consensus is clear that curve progression correlates with deterioration of pulmonary function. However, no clear-cut consensus exists that surgery improves or halts the pulmonary deterioration in spinal muscle atrophy (spinal muscular atrophy, SMA). It is clear, though, that in order to avoid pulmonary infections or prolonged postsurgical intubations, aggressive preoperative pulmonary care must be offered.
  • Physical and occupational therapists: Physical therapy may be employed for joint contracture prevention or stretching. Occupational therapy may be employed for adaptive equipment for activities of daily living (ADLs).
  • Geneticist: A geneticist may be consulted for DNA evaluation of the patient and parents for counseling purposes.
  • Orthotics specialist: An orthotics consultation may be necessary for splinting and spine bracing (soft, custom-molded thoracolumbosacral orthosis [TLSO]) for young children with flexible curves of 20-40°.23,24

Diet

History of nutritional intake, nutritional needs, and associated medical conditions with a thorough physical examination, anthropometric measures, body composition, and biochemical markers are important elements of the assessment in spinal muscle atrophy (spinal muscular atrophy, SMA).25 Intervention may include increase or decrease of energy intake. For example, dysphagia may be treated with position changes, volume changes, or thickening of liquids. A percutaneous endoscopic gastrostomy was found to be safe with minimal risks in almost all situations.

Activity

Physical therapy should be instituted for gentle motion exercises to prevent joint contractures. Physical and occupational therapy may be beneficial for maintenance of strength and endurance, independence in self-care, and educational, social, psychological, and vocational activities.26

Medication

No drug treatment is available for spinal muscle atrophy (spinal muscular atrophy, SMA). Some interest has arisen in the use of inhibitors of g -aminobutyric acid synthesis, with promising results.

More on Spinal Muscle Atrophy

Overview: Spinal Muscle Atrophy
Differential Diagnoses & Workup: Spinal Muscle Atrophy
Treatment & Medication: Spinal Muscle Atrophy
Follow-up: Spinal Muscle Atrophy
Multimedia: Spinal Muscle Atrophy
References
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References

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Further Reading

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Keywords

spinal muscle atrophy, spinal muscular atrophy, SMA, muscle atrophy, muscular atrophy, Werdnig-Hoffmann disease, Werdnig-Hoffmann, Werdnig Hoffmann, Kugelberg-Welander disease, Kugelberg-Welander, Kugelberg Welander, hypotonia, muscle weakness, spinal fusion, spinal muscular atrophies of childhood, spinal muscular atrophy of childhood, spinal cord disease, spinal infantile muscular atrophy, spinal infantile muscle atrophy

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Contributor Information and Disclosures

Author

Jose A Herrera-Soto, MD, Assistant Program Director of Pediatric Orthopedic Fellowship, Orlando Regional Healthcare
Jose A Herrera-Soto, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, North American Spine Society, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society
Disclosure: Nothing to disclose.

Coauthor(s)

Alvin H Crawford, MD, FACS, Professor of Pediatrics and Orthopedic Surgery, University of Cincinnati College of Medicine; Director, Division of Pediatric Orthopedic Surgery, Department of Orthopedic Surgery, Cincinnati Children's Hospital Medical Center
Alvin H Crawford, MD, FACS is a member of the following medical societies: Ohio State Medical Association and Scoliosis Research Society
Disclosure: Nothing to disclose.

Charles T Mehlman, DO, MPH, Director, Musculoskeletal Outcomes Research, Associate Professor, Division of Pediatric Orthopedic Surgery, Cincinnati Children's Hospital Medical Center
Charles T Mehlman, DO, MPH is a member of the following medical societies: American Academy of Pediatrics, American Fracture Association, American Medical Association, American Orthopaedic Foot and Ankle Society, American Osteopathic Association, Arthroscopy Association of North America, North American Spine Society, Ohio State Medical Association, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society
Disclosure: Nothing to disclose.

Medical Editor

James F Kellam, MD, Vice-Chair, Department of Orthopedic Surgery, Director of Orthopedic Trauma and Education, Carolinas Medical Center
James F Kellam, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, Orthopaedic Trauma Association, and Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

Pharmacy Editor

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

Managing Editor

William O Shaffer, BS, MD, Professor, Vice-Chairman and Residency Program Director, Department of Orthopedic Surgery, University of Kentucky at Lexington
William O Shaffer, BS, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Orthopaedic Association, International Society for the Study of the Lumbar Spine, Kentucky Medical Association, Kentucky Orthopaedic Society, North American Spine Society, Southern Medical Association, and Southern Orthopaedic Association
Disclosure: DePuySpine 1997-2007 (not presently) Royalty Consulting; DePuySpine 2002-2007 (closed) Grant/research funds SacroPelvic Instrumentation Biomechanical Study; DePuyBiologics 2005-2008 (closed) Grant/research funds Healos study just closed

CME Editor

Dinesh Patel, MD, FACS, Associate Clinical Professor of Orthopedic Surgery, Harvard Medical School; Chief of Arthroscopic Surgery, Department of Orthopedic Surgery, Massachusetts General Hospital
Dinesh Patel, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Association of Physicians of Indian Origin, American College of International Physicians, and American College of Surgeons
Disclosure: Nothing to disclose.

Chief Editor

Mary Ann E Keenan, MD, Professor, Vice Chair for Graduate Medical Education, Department of Orthopedic Surgery, University of Pennsylvania School of Medicine; Chief of Neuro-Orthopedics Program, Department of Orthopedic Surgery, Hospital of the University of Pennsylvania
Mary Ann E Keenan, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Orthopaedic Surgeons, American Orthopaedic Association, American Orthopaedic Foot and Ankle Society, American Society for Surgery of the Hand, and Orthopaedic Rehabilitation Association
Disclosure: Nothing to disclose.

 
 
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