SciELO - Scientific Electronic Library Online

 
vol.5 issue2PERITONEAL HISTOPLASMOSIS. CASE REPORTMULTIPLE ORGAN FAILURE CAUSED BY POISONOUS CONTACT WITH A LONOMIA SP CATERPILLAR. CASE REPORT author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

Related links

  • On index processCited by Google
  • Have no similar articlesSimilars in SciELO
  • On index processSimilars in Google

Share


Case reports

Print version ISSN 2462-8522

Abstract

TORRES-CUENCA, Thomas; DIAZ-RUIZ, Jorge Arturo  and  ORTIZ-CORREDOR, Fernando. FUNCTIONAL ASSESSMENT USING SHORT TESTS IN A PATIENT WITH POMPE DISEASE RECEIVING ENZYME REPLACEMENT THERAPY: CASE REPORT. Case reports [online]. 2019, vol.5, n.2, pp.98-104.  Epub Nov 25, 2019. ISSN 2462-8522.  https://doi.org/10.15446/cr.v5n2.76711.

Introduction:

Pompe disease is characterized by the deficiency of the acid alfa glucosidase enzyme, which leads to a glycogen accumulation mainly in cardiac and skeletal muscles. Its onset may be early or late; the late form is more difficult to handle given the variety of presentations. Enzyme replacement therapy has shown to improve gross motor function and lung function in patients.

Case description:

Female patient who presented chronic quadriparesis. She was diagnosed with Pompe disease, which required enzyme replacement therapy that helped improve the symptoms, which was evident with the performance of rapid functional evaluation tests.

Discussion:

Enzyme replacement therapy in Pompe disease modifies the natural history of the disease. A brief review of the literature about the functional tests that can be used to assess a patient with this disorder is presented.

Conclusion:

The 10-meter walk test, one-leg stance test, cervical flexion in supine position, five times sit to stand test, and coin rotation task are useful for clinical evaluation in patients with Pompe disease receiving enzyme replacement therapy.

Keywords : Glycogen Storage Disease Type II; Enzyme Replacement Therapy; Recovery of Function; Glycogen Storage Disease Type IIB; Minimal Clinically Important Difference; Muscle Disorders.

        · abstract in Spanish     · text in English     · English ( pdf )