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Spinal Muscle Atrophy Medication

  • Author: Joseph T Cox, MD; Chief Editor: Jeffrey A Goldstein, MD  more...
Updated: Oct 14, 2014

Medication Summary

No drug treatment is available for spinal muscle atrophy (SMA; also known as spinal muscular atrophy). Some interest has arisen in the use of inhibitors of gamma -aminobutyric acid synthesis, with promising results. Rigo et al reported on developments in the use of antisense-based therapy.[33] Research into genetic therapies, as well as molecular and stem cell – mediated therapies, is ongoing.[34, 35]

Contributor Information and Disclosures

Joseph T Cox, MD Resident Physician, Department of Orthopedic Surgery, Sports Medicine and Rehabilitation, Wright State University, Boonshoft School of Medicine

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Chief Editor

Jeffrey A Goldstein, MD Clinical Professor of Orthopedic Surgery, New York University School of Medicine; Director of Spine Service, Director of Spine Fellowship, Department of Orthopedic Surgery, NYU Hospital for Joint Diseases, NYU Langone Medical Center

Jeffrey A Goldstein, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American College of Surgeons, American Orthopaedic Association, North American Spine Society, Scoliosis Research Society, Cervical Spine Research Society, International Society for the Study of the Lumbar Spine, AOSpine, Society of Lateral Access Surgery, International Society for the Advancement of Spine Surgery, Lumbar Spine Research Society

Disclosure: Received consulting fee from Medtronic for consulting; Received consulting fee from NuVasive for consulting; Received royalty from Nuvasive for consulting; Received consulting fee from K2M for consulting; Received ownership interest from NuVasive for none.

Additional Contributors

James F Kellam, MD, FRCSC, FACS, FRCS(Ire) Professor, Department of Orthopedic Surgery, University of Texas Medical School at Houston

James F Kellam, MD, FRCSC, FACS, FRCS(Ire) is a member of the following medical societies: American Academy of Orthopaedic Surgeons, Orthopaedic Trauma Association, Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.


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.

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.

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.

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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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