Functional assessment using short tests in a patient with Pompe disease receiving enzyme replacement therapy: case report

Abstract

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.