Spinal Muscle Atrophy Treatment & Management

  • Author: Jose A Herrera-Soto, MD; Chief Editor: Mary Ann E Keenan, MD   more...
 
Updated: Sep 16, 2010
 

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.[24, 25] See Surgical Care below for an in-depth discussion of treatment of contractures.[26]

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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.
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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°.[27, 28]
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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).[29] 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.

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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.[30, 31]

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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  Professor of Pediatrics and Pediatric Orthopedic Surgery, Division of Pediatric Orthopedic Surgery, Director, Musculoskeletal Outcomes Research, 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.

Specialty Editor Board

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.

Francisco Talavera, PharmD, PhD  Senior Pharmacy Editor, eMedicine

Disclosure: eMedicine Salary Employment

William O Shaffer, MD  Professor, Vice-Chairman and Residency Program Director, Department of Orthopedic Surgery, University of Kentucky at Lexington

William O Shaffer, 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; DePuySpine 2009 Consulting fee Design of Offset Modification of Expedium

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

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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Spinal muscle atrophy, Werdnig-Hoffman disease. Small muscle fibers within separate muscle fascicles.
Spinal muscle atrophy, Werdnig-Hoffman disease. Marked variation in muscle fiber size as well as a relative increase in associated connective tissue.
Spinal muscle atrophy, Kugelberg-Welander disease. Marked variation in muscle fiber size along with increased perimysial connective tissue.
Spinal muscle atrophy, Kugelberg-Welander disease. Muscle fiber variation with some demonstrating internal nuclei.
Spinal muscle atrophy. At age 4 years, this boy's chest radiograph already reveals the presence of significant 32° left thoracic scoliosis. His diagnosis is type I spinal muscle atrophy (Werdnig-Hoffmann disease). This radiograph captures the lumbar curvature incompletely.
Spinal muscle atrophy. By age 6 years, the child's curve is starting to decompensate. Note the development of a right-sided truncal shift. He now has a 40° thoracic curve and a 60° lumbar curvature.
Spinal muscle atrophy. Spine anteroposterior view. The spinal curvature is progressing. The lumbar curve now is 70° and the thoracic curve is 35°. Note that one can now clearly see that the right hip is dislocated. Also note the marked pelvic obliquity in this patient.
Spinal muscle atrophy. By age 9 years, this patient with type I spinal muscle atrophy now has a thoracic curve of 60° and a lumbar curve of 110°. Note that the patient has a tracheostomy tube and a nasogastric tube as well.
Spinal muscle atrophy. Immediate postoperative anteroposterior radiograph of the patient at age 9 years. The thoracic curve is now at 18° and the lumbar curve is 35°, which represents more than 67% curvature correction.
Spinal muscle atrophy. Immediate postoperative lateral view with good sagittal balance.
Spinal muscle atrophy. Follow-up radiographs in the patient at age 13 years reveal some spinal decompensation. Note the so-called coat hanger appearance of the ribs in the patient's dysplastic right hemithorax.
Spinal muscle atrophy. Anteroposterior radiograph of the pelvis demonstrating right hip dislocation.
Spinal muscle atrophy. Lauenstein lateral view of the hips on the patient with spinal muscle atrophy type I. Note the near universal pelvic dysmorphology (eg, widened obturator foramina) in addition to the dislocated right hip.
 
 
 
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