inner-banner-bg

Journal of Genetic Engineering and Biotechnology Research(JGEBR)

ISSN: 2690-912X | DOI: 10.33140/JGEBR

Impact Factor: 1.2

Clinical and Para clinical Findings in a Patient Confirming the Diagnosis of Glycogen Storage Disease Type Ii and Myotonic Dystrophy Type 1: Case Report

Abstract

Lina P. Guerrero-Cardozo, Carolina Rivera-Nieto, Ivan M. Gonz�lez-Zambrano, Liliana M. Garcia Gutierrez and Catalina Gomez-Guevara

We present the case of a 34-year-old woman from Bogotá, Colom- bia who presents frequent falls, distal muscle weakness, a feeling of “stiffness” predominantly in the upper limbs, and dyspnea. The disease impaired the different daily life activities, including the performance of her job. She was diagnosed with Obstructive Sleep Apnea / Hypopnea Syndrome (OSAHS), so management with Bi- Pap was initiated.

PDF