Pérez TE, Zavala SMT, Abdo FJM

Language: Spanish
References: 17
Page: 155-159
PDF size: 138.56 Kb.

ABSTRACT

The authors report a case of a 59 year old female referred to the General Hospital of Mexico with dysphagia. After laboratory, radiology and genetic studies (PABPN1) we diagnosticated oculopharyngeal muscular dystrophy. Cricopharyngeal myotomy was performed with good result.

REFERENCES

1. Miranda NG, Susa BJ, Carrasco VM. Distrofia muscular oculofaríngea: Informe del caso clínico de una familia y revisión en la literatura. Neurol Neurocir Psiquiat 2003; 36 (4): 195-198.

2. Munitiz V, Ortiz A, Martínez de Haro LF, Glover G, Ferri B, Montoya M et al. Diagnosis and treatment of oculopharyngeal dystrophy: a report of three cases from the same family. Dis Esophagus 2003; 16: 160-164.

3. Brais B, Bouchard JP, Rochefort DL et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nature Genet 1998; 18: 164-167.

4. ASEM www.asem-esp.org. Derechos de traducción cedidos por la AFM (AFM (Association Française contre les Myopathies), ASEM (Asociación Española contra las Enfermedades Neuromusculares).

5. Rivera D. Two different PABPN1 expanded alleles in a Mexican population with oculopharyngeal muscular dystrophy arising from independent founder effects. Br J Ophthalmol 2008; 92 (7): 998-1002.

6. Blumen SC, Nisipenau P, Sadah M. Clinical features of oculopharyngeal muscular dystrophy among Bukhara Jews. Neuromusc Disor 1991; 3: 575-577.

7. Rodríguez M, Camejo C, Bertoni B, Braida C, Rodríguez M, Brais B et al. GCG founder mutation in the PABPN1 gene of OPMD Uruguayan families. Neuromuscul Disord 2005; 15: 185-190.

8. Oculopharyngeal Muscular Dystrophy. Goetz: Textbook of Clinical Neurology. 3rd ed. Elsevier; 2007. p. 1438-1441.

9. Hill M, Hughes T, Milford C. Tratamiento para las dificultades de la deglución (disfagia) en enfermedades musculares crónicas (Revisión Cochrane traducida). En: La Biblioteca Cochrane Plus, 2007 Núm 4. Oxford: Update Software Ltd. Disponible en: http://www.update-software.com (traducida de The Cochrane Library, 2007 Issue 4. Chichester, UK: John Wiley & Sons, Ltd.).

10. Pou A, Lloreta J, Corominas JM, Hammouda EH, Urtizberea JA, Richard P et al. Distrofia muscular oculofaríngea: estudio de pacientes pertenecientes a siete familias españolas con diferentes expansiones GCG en el gen PABP1. Neurología 2004; 19: 239-247.

11. Brais B, Bouchard J.P, Xie YG, Rochefort DL, Chrétien N, Tomé FM et al. Short GCG expansions in the PAPB1 gene cause oculopharyngeal muscular dystrophy. Nat Genet 1998; 18: 164-167.

12. Fradet G, Pouliot D, Lavoie S, St-Pierre S. Inferior constrictor myotomy in oculopharyngeal muscular dystrophy: Clinical and manometric evaluation. J Otolaryngol 1988; 17: 68-73.

13. Hurwitz AL, Nelson JA, Haddad JK. Oropharyngeal dysphagia: Manometric and cine esophagraphic findings. Am J Dig Dis 1975; 20: 313.

14. David VC. Relief of dysphagia in motor neuron disease with cricopharyngeal myotomy. Ann R Coll Surg Engl 1985; 67: 229.

15. Duranceau A,Forand MD,Fauteux JP. Surgery in oculopharyngeal muscular dystrophy. Am J Surg 1980; 139: 33.

16. Munitiz V, Ortiz A, Martínez L, Glover G. Diagnóstico y tratamiento de la distrofia oculofaríngea. Presentación de tres casos de una misma familia. Cir Esp 2004; 76: 400-403.

17. Becerra EM, Blanco G, Muñoz Y, Briancrotto C. Tratamiento quirúrgico de la ptosis palpebral biogénica adquirida. Arch Soc Esp Oftalmol 2005; 80: 359-364.