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2019, Number 3

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Rev Cubana Med Gen Integr 2019; 35 (3)

Miyoshi type´s distal myopathy

Creagh BI, Pérez FYC, Morocho RKC

Language: Spanish
References: 10
Page: 1-7
PDF size: 110.60 Kb.


ABSTRACT

Introduction: Muscular dystrophy of Miyoshi type is a genetic and neuromuscular disease that affects the pelvic and shoulder girdle and causes high degree of disability. Its diagnosis is through enzyme testing and muscle biopsy.
Clinical case: 48- years- male patient with evolution of his diagnosis made 16 years ago. The patient had great functional limitation for walking from a year and a half before, muscle weakness and atrophy of the posterior muscles of both lower limbs. It was applied comprehensive rehabilitation treatment with specific objectives.
Conclusions: After 30 treatment sessions, the objectives were achieved with a satisfactory evolution. The comprehensive rehabilitative treatment proved to be an important pillar in the patient´s clinical improvement.


REFERENCES

  1. Erazo-Torricelli R. Actualización en distrofias musculares. Rev Neurol. 2004;39:860-71.

  2. Frosk P, Weiler T, Nylen E, Sudha T, Greenberg CR, Morgan K, et al. Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3- ubiquitin-ligase gene. Am J Hum Genet. 2012;70(3):663-72.

  3. Mayans O, Van der Ven PF, Wilm M, Mues A, Young P, Fürst DO, et al. Structural basis for activation of the titinkinasedomainduringmyofibrillogenesis. Nature. 1998;395(6705):863-9. Erratum in: Nature. 1999;397(6712):719.

  4. Wehnert MS, Bonne G. The nuclear muscular dystrophies. Semin Pediatr Neurol. 2012;9:100-7.

  5. Fairley EA, Kendrick-Jones J, Ellis JA. The Eme Confalonieri P, Oliva L, Andreetta F, et al. Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: animmunopathological study. J Neuroimmunol. 2013;142(1-2):130-6.

  6. Bornemann A, Anderson LV. Diagnostic protein expression in human muscle biopsies. Brain Pathol. 2000;10:193-214.

  7. Shuk D, Vilquin JT, Tremblay JP. Experimental and therapeutic approaches to muscular dystrophies. Curr Opin Neurol. 2012;15;563-9.

  8. Emery AEH, Dreyfuss FE. Unusual type of bening X- linked muscular dystrophy. J Neurol Neurosurg Psychiatry. 1966;29;338.

  9. Asem Aragon. Miopatía distal tipo Miyoshi. 2013 [acceso: 10/10/2017];65(1):201. Disponible en: http://www.asemaragon.com/las-enm/fichas-tecnicas/65-miopatias-distales/201-miopatia-distal-de-tipo-miyoshi# .

  10. López-Hernández LB, Ayala-Madrigal ML, van Heudsen D, Estrada-Mena FJ, Canto P, Sandóval-Ramírez L, et al. Mejoras en el diagnóstico de distrofinopatías: ¿qué hemos aprendido después de 20 años? Rev Neurol. 2010;52:239-49.




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