Spinal Muscle Atrophy Follow-up

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

Further Inpatient Care

  • To avoid pulmonary infections or prolonged postsurgical intubations, aggressive preoperative pulmonary care must be provided in patients with spinal muscle atrophy (spinal muscular atrophy, SMA).
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Further Outpatient Care

  • Pediatric orthopedic surgeon evaluation: Patients with spinal muscle atrophy (spinal muscular atrophy, SMA) must be monitored periodically to evaluate their nutritional status and their spine and hips, as well as to evaluate for contracture development.
  • Physical therapy: Physical therapy is useful for joint contracture prevention and stretching.
  • Occupational therapy: Occupational therapy is useful for adaptive equipment for activities of daily living (ADLs).
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Transfer

  • In cases of pulmonary compromise in patients with spinal muscle atrophy (spinal muscular atrophy, SMA), transfer to the pediatric pneumology service for stabilization and treatment of complications should be considered.
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Deterrence/Prevention

  • See Patient Education.
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Complications

  • The most common medical complications associated with spinal muscle atrophy (spinal muscular atrophy, SMA) are recurrent respiratory system infections.
  • One of the drawbacks to posterior spinal fusion in patients with SMA is that these patients have decreased ability to perform ADLs. The now rigid and straight spine creates several difficulties. Independent feeding and hygiene are impaired, as the patient can no longer bring the hands to the face secondary to the proximal upper extremity weakness. This possibility must be discussed with the family and patient prior to surgery.
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Prognosis

  • As a general rule, the younger the patient at disease onset, the worse the prognosis is. Patients with type I spinal muscle atrophy (spinal muscular atrophy, SMA) usually die by age 2 years. Patients with type II SMA have a greater expected life span than patients with type I SMA. Some patients with type II SMA live into the fifth decade of life. Patients with type III SMA have nearly normal life expectancy.
  • Death occurs as a result of respiratory compromise. The life span of affected individuals has significantly increased with the use of intermittent positive pressure ventilation with or without a tracheostomy.
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Patient Education

  • Prenatal diagnosis in the first trimester and proper genetic counseling are possible with DNA analysis. This enables more accurate carrier detection. Not all parents of children with spinal muscle atrophy (spinal muscular atrophy, SMA) are obligate carriers.[32]
  • Carrier testing is important for reproductive decision-making. Three percent of cases are sporadic.
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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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