Muscular Oculo-Pharyngeal Dystrophy.A study in one family.

Authors

  • Elsa Luna Ceballos HOSPITAL DOCENTE PEDIÁTRICO“ELISEO NOEL CAAMAÑO. MATANZAS.
  • María E Domínguez Pérez HOSPITAL DOCENTE PEDIÁTRICO“ELISEO NOEL CAAMAÑO. MATANZAS

Keywords:

DISTROFIAS MUSCULARES, MUSCULOS OCULOMOTORES, NERVIOS PERIFÉRICOS, HUMANO, ADULTO

Abstract

The muscular oculo-pharyngeal dystrophy is a hereditary disorder of rare occurrence. This syndrome is essentially distinguished by ophthalmologic, muscular and digestive disturbances, among others. A family is presented in whom, starting from the control case, other affected relatives have been detected, with a similar clinical picture or signs and symptoms incipient of the disease, demonstrating the existence of a dominant autosomic inheritance pattern for this condition. Due to the infrequency of this disease, in which the disorders become progressively worse, getting to be invalidating to the patient, and also, because of its inherited character, this family is placed into consideration of other specialists.

Downloads

Download data is not yet available.

Downloads

How to Cite

1.
Luna Ceballos E, Domínguez Pérez ME. Muscular Oculo-Pharyngeal Dystrophy.A study in one family. Rev Méd Electrón [Internet]. 2014 Feb. 19 [cited 2025 Jan. 23];26(6):263-6. Available from: https://revmedicaelectronica.sld.cu/index.php/rme/article/view/180

Issue

Vol. 26 No. 6 (2004)

Section

Presentation of cases

License

All content published in this journal is Open Access, distributed under the terms of the CC BY-NC 4.0 License.

It allows:

 - Copy and redistribute published material in any medium or format.

 - Adapt the content.

 This will be done under the following terms:

 - Attribute the authors' credits and indicate whether changes were made, in which case it must be in a reasonable way.

 - Non-commercial use.

 - Recognize the journal where it is published.

 The copyrights of each article are maintained, without restrictions.