Spinal Muscle Atrophy Differential Diagnoses

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

Differential Diagnoses

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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.

References

  1. Aiona MD, Sarwark JF, Sussman MD. Neuromuscular disorders in children. In: Orthopaedic Knowledge Update. American Academy of Orthopaedic Surgeons;1999:240-241.

  2. Bowen JR, Forlin E. Spinal muscular atrophy. In: Weinstein SL, ed. The Pediatric Spine: Principles and Practice. New York, NY: Raven Press; 1994:1025-1042.

  3. Cifuentes-Diaz C, Frugier T, Melki J. Spinal muscular atrophy. Semin Pediatr Neurol. Jun 2002;9(2):145-50. [Medline].

  4. Herring JA. Disorders of the spinal cord. In: Tachdjian Pediatric Orthopaedics. vol 2. Philadelphia, Pa: WB Saunders Co; 2002:1311-1319.

  5. Werdnig G. Ueber einem Fall von Dystrophiae musculorum mit positivenen Ruckenmakefunde. Wien me Wchnschr. 1890;40:1798.

  6. Kugelberg E, Welander L. Heredo-familial juvenile muscular atrophy simulating muscular dystrophy. AMA Arch Neurol Psychiatry. 1956;75:500.

  7. Hoffman J. Ueber chronische spinale Muskelatophie im Kindersalter. Deutsch Ztschv f Nerrenh. 1891;1:95.

  8. Soler-Botija C, Ferrer I, Gich I, et al. Neuronal death is enhanced and begins during foetal development in type I spinal muscular atrophy spinal cord. Brain. Jul 2002;125(Pt 7):1624-34. [Medline].

  9. Brzustowicz LM, Lehner T, Castilla LH, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature. Apr 5 1990;344(6266):540-1. [Medline].

  10. Pearn J. Genetic studies of acute infantile spinal muscular atrophy (SMA type I). An analysis of sex ratios, segregation ratios, and sex influence. J Med Genet. Dec 1978;15(6):414-7. [Medline].

  11. Burd L, Short SK, Martsolf JT, Nelson RA. Prevalence of type I spinal muscular atrophy in North Dakota. Am J Med Genet. Nov 1 1991;41(2):212-5. [Medline].

  12. Simic G. Pathogenesis of proximal autosomal recessive spinal muscular atrophy. Acta Neuropathol. Jul 16 2008;[Medline].

  13. Thieme A, Mitulla B, Schulze F, Spiegler AW. Epidemiological data on Werdnig-Hoffmann disease in Germany (West- Thuringen). Hum Genet. Apr 1993;91(3):295-7. [Medline].

  14. Hausmanowa-Petrusewicz I, Zaremba J, Borkowska J. Chronic proximal spinal muscular atrophy of childhood and adolescence: sex influence. J Med Genet. Dec 1984;21(6):447-50. [Medline].

  15. Piepers S, van den Berg LH, Brugman F, Scheffer H, Ruiterkamp-Versteeg M, van Engelen BG, et al. A natural history study of late onset spinal muscular atrophy types 3b and 4. J Neurol. Jun 30 2008;[Medline].

  16. Bouwsma G, Van Wijngaarden GK. Spinal muscular atrophy and hypertrophy of the calves. J Neurol Sci. Jan 1980;44(2-3):275-9. [Medline].

  17. Narayanan U, Ospina JK, Frey MR, et al. SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin beta. Hum Mol Genet. Jul 15 2002;11(15):1785-95. [Medline].

  18. Wehner KA, Ayala L, Kim Y, et al. Survival motor neuron protein in the nucleolus of mammalian neurons. Brain Res. Aug 2 2002;945(2):160-73. [Medline].

  19. Thi Man N, Humphrey E, Lam LT, Fuller HR, Lynch TA, Sewry CA, et al. A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy. Neurology. Jul 16 2008;[Medline].

  20. Panigrahi I, Kesari A, Phadke SR, Mittal B. Clinical and molecular diagnosis of spinal muscular atrophy. Neurol India. Jun 2002;50(2):117-22. [Medline].

  21. Rudnik-Schöneborn S, Heller R, Berg C, Betzler C, Grimm T, Eggermann T, et al. Congenital heart disease is a feature of severe infantile spinal muscular atrophy. J Med Genet. Jul 28 2008;[Medline].

  22. Little SE, Janakiraman V, Kaimal A, Musci T, Ecker J, Caughey AB. The cost-effectiveness of prenatal screening for spinal muscular atrophy. Am J Obstet Gynecol. Mar 2010;202(3):253.e1-7. [Medline].

  23. Pandey R, Chandratre S, Roberts A, Dwyer JS, Sewry C, Quinlivan R. Central core myopathy with RYR1 mutation masks 5q Spinal Muscular Atrophy. Eur J Paediatr Neurol. May 7 2010;[Medline].

  24. Stavarachi M, Apostol P, Toma M, Cimponeriu D, Gavrila L. Spinal muscular atrophy disease: a literature review for therapeutic strategies. J Med Life. Jan-Mar 2010;3(1):3-9. [Medline].

  25. Lorson CL, Rindt H, Shababi M. Spinal muscular atrophy: mechanisms and therapeutic strategies. Hum Mol Genet. Apr 15 2010;19:R111-8. [Medline]. [Full Text].

  26. Han JJ, McDonald CM. Diagnosis and clinical management of spinal muscular atrophy. Phys Med Rehabil Clin N Am. Aug 2008;19(3):661-80. [Medline].

  27. Schwentker EP, Gibson DA. The orthopaedic aspects of spinal muscular atrophy. J Bone Joint Surg Am. Jan 1976;58(1):32-8. [Medline].

  28. Shapiro F, Specht L. The diagnosis and orthopaedic treatment of childhood spinal muscular atrophy, peripheral neuropathy, Friedreich ataxia, and arthrogryposis. J Bone Joint Surg Am. Nov 1993;75(11):1699-714. [Medline].

  29. Narver HL, Kong L, Burnett BG, Choe DW, Bosch-Marcé M, Taye AA, et al. Sustained improvement of spinal muscular atrophy mice treated with trichostatin a plus nutrition. Ann Neurol. Jul 25 2008;[Medline].

  30. Takeuchi Y, Katsuno M, Banno H, Suzuki K, Kawashima M, Atsuta N, et al. Walking capacity evaluated by the 6-minute walk test in spinal and bulbar muscular atrophy. Muscle Nerve. Jul 18 2008;38(2):964-971. [Medline].

  31. Aagaard P, Suetta C, Caserotti P, Magnusson SP, Kjaer M. Role of the nervous system in sarcopenia and muscle atrophy with aging: strength training as a countermeasure. Scand J Med Sci Sports. Feb 2010;20(1):49-64. [Medline].

  32. Zeesman S, Whelan DT, Carson N, et al. Parents of children with spinal muscular atrophy are not obligate carriers: carrier testing is important for reproductive decision-making. Am J Med Genet. Jan 22 2002;107(3):247-9. [Medline].

 
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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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