Palmer-MoralesY , Pacheco-Flores G, Ames-Guevara Y, Gaxiola-Apodaca M, Gaspar-Franco D, Landavazo-Acuña G, Hernández-Rocha F

Language: Spanish
References: 14
Page: 317-319
PDF size: 28.00 Kb.

ABSTRACT

Spinal muscular atrophy (SMA) is an autonomic recessive disorder that affects the anterior horn cells of the spinal cord, degeneration of which results in proximal muscle weakness. It is classified into three types: I and II (Werdnig-Hoffmann disease) and III (Kugelberg-Welander disease). With an incidence of 1/10,000. We report two cases of infants with hypotonic syndrome, that were diagnose with SMA, in the first case by muscular biopsy, and in the second by electromyography and chromosomes study. It is import that the physicians know about this disease, and its complications.

REFERENCES

1. Padrón-Arredondo G, López-Gómez L. Atrofia muscular espinal infantil tipo I. Presentación de un caso presuntivo y revisión de la literatura. Salud en Tabasco 2007;13(3):700-703. Disponible en http:// redalyc.uaemex.mx/pdf/487/48713305.pdf

2. Schwentker EP, Gibson DA. The orthopedic aspects of spinal muscular atrophy. J Bone Joint Surg Am 1976;58(1):32-38.

3. Chung BH, Wong VC, Ip P. Spinal muscular atrophy: survival pattern and functional status. Pediatrics 2004;114(5):548-553. Disponible en http:// pediatrics.aappublications.org/cgi/reprint/114/5/e548

4. Campbell L, Potter A, Ignatius J, Dubowitz V, Davies K. Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am J Hum Genet 1997;61 (1):40-50. Disponible en http://www. ncbi.nlm.nih. gov/pmc/articles/PMC1715870/pdf/ ajhg00007-0068.pdf

5. Schmalbruch H, Haase G. Spinal muscular atrophy: present state. Brain Pathol 2001;11(2):231- 247.

6. Acevedo-López AM, Zaldívar-Vaillant T, Moreno F, Hernández-Chico C. Atrofia muscular espinal infantil. Introducción del diagnostico molecular en Cuba. Rev Cubana Obstet Ginecol 1999;25(2): 128-134. Disponible en http://scielo.sld.cu/pdf/gin/ v25n2/gin11299.pdf

7. Akutsu T, Nishio H, Sumino K, Takeshima Y, Tsuneishi S, Wada H, T, et al. Molecular genetics of spinal muscular atrophy: contribution of the NAIP gene to clinical severity. Kobe J Med Sci 2002;48(12-2):25-31. Disponible en http://www. med.kobe-u.ac.jp/journ al/contents/48/25.pdf

8. Jong YJ, Chang JG, Wu JR. Large-scale deletions in a Chinese infant associated with a variant form of Werdnig-Hoffmann disease. Neurology 1998; 51(3):878-879.

9. Collado-Ortiz MA, Shkurovich-Bialik P, Gonzalesde Leo S, Arch-Tirado E. Atrofia espinal tipo I (enfermedad de Werdnig-Hoffmann). Reporte de un caso. Cir Cir 2007;75(2):119-122. Disponible en http://www.medigraphic.com/espanol/e-htms/ e-circir/e-cc2007/e-cc07-2/em-cc072k.htm

10. Menéndez-Alejo I, Hernández-Chico C, Cepero- Noriega F. Estudio clínico, genético y molecular en un paciente con atrofia muscular espinal. Rev Cubana Pediatr 1998;70(1):48-52. Disponible en http://scielo.sld.cu/pdf/ped/v70n1/ped09198.pdf

11. Garza-Alatorre AG, Rodríguez-Bonito R, López- Espinoza JA, Nieto-Sanjuanero A. Atrofia muscular espinal tipo I. reporte de un caso atípico. Rev Mex Pediatr 2001;68(2):69-71. Disponible en http://www.medigraphic.com/espanol/e-htms/epediat/ e-sp2001/e-sp01-2/em-sp012f.htm

12. Petrone A, Pavone M, Testa MB, Petreschi F, Bertini E, Cutrera R. Noninvasive ventilation in children with spinal muscular atrophy types 1 and 2. Am J Phys Med Rehabil 2007;86(3):216-221.

13. Loos C, Leclair-Richard D, Mrad S, Barois A, Estournet-Mathiaud B. Respiratory capacity course in patients with infantile spinal muscular atrophy. Chest 2004; 126(3):831-837. Disponible en http://chestjournal.chestpubs.org/content/126/3/ 831.full.pdf+html

14. Bach JR, Niranjan V, Weaver B. Spinal muscular atrophy type 1: a noninvasive respiratory management approach. Chest 2000;117(4):1100.1105. Disponible en http://chestjournal.chestpubs.org/ content/117/4/1100.full.pdf+html