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Spinal Muscle Atrophy: Multimedia
Updated: Aug 21, 2008
Multimedia
![]() | Media file 1: Spinal muscle atrophy, Werdnig-Hoffman disease. Small muscle fibers within separate muscle fascicles. |
![]() | Media file 2: Spinal muscle atrophy, Werdnig-Hoffman disease. Marked variation in muscle fiber size as well as a relative increase in associated connective tissue. |
![]() | Media file 3: Spinal muscle atrophy, Kugelberg-Welander disease. Marked variation in muscle fiber size along with increased perimysial connective tissue. |
![]() | Media file 4: Spinal muscle atrophy, Kugelberg-Welander disease. Muscle fiber variation with some demonstrating internal nuclei. |
![]() | Media file 10: Spinal muscle atrophy. Immediate postoperative lateral view with good sagittal balance. |
![]() | Media file 12: Spinal muscle atrophy. Anteroposterior radiograph of the pelvis demonstrating right hip dislocation. |
More on Spinal Muscle Atrophy |
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| 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
Aiona MD, Sarwark JF, Sussman MD. Neuromuscular disorders in children. In: Orthopaedic Knowledge Update. American Academy of Orthopaedic Surgeons;1999:240-241.
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.
Cifuentes-Diaz C, Frugier T, Melki J. Spinal muscular atrophy. Semin Pediatr Neurol. Jun 2002;9(2):145-50. [Medline].
Herring JA. Disorders of the spinal cord. In: Tachdjian Pediatric Orthopaedics. vol 2. Philadelphia, Pa: WB Saunders Co; 2002:1311-1319.
Werdnig G. Ueber einem Fall von Dystrophiae musculorum mit positivenen Ruckenmakefunde. Wien me Wchnschr. 1890;40:1798.
Kugelberg E, Welander L. Heredo-familial juvenile muscular atrophy simulating muscular dystrophy. AMA Arch Neurol Psychiatry. 1956;75:500.
Hoffman J. Ueber chronische spinale Muskelatophie im Kindersalter. Deutsch Ztschv f Nerrenh. 1891;1:95.
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].
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].
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].
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].
Simic G. Pathogenesis of proximal autosomal recessive spinal muscular atrophy. Acta Neuropathol. Jul 16 2008;[Medline].
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].
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].
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].
Bouwsma G, Van Wijngaarden GK. Spinal muscular atrophy and hypertrophy of the calves. J Neurol Sci. Jan 1980;44(2-3):275-9. [Medline].
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].
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].
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].
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].
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].
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].
Schwentker EP, Gibson DA. The orthopaedic aspects of spinal muscular atrophy. J Bone Joint Surg Am. Jan 1976;58(1):32-8. [Medline].
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].
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].
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].
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].
Further Reading
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


























Multimedia: Spinal Muscle Atrophy