FIRST CASE OF POMPE DISEASE IN AN ADULT IN PARÁ

Abstract

Pompe’s Disease is a rare hereditary condition, marked by the acid alpha glucosidase enzyme (GAA) deficiency remaining a storage of glycogen in the cell, and so it results in irriversible damage, mainly in muscle cells. This study intends to report the first case of Late Onset Pompe Disease (LOPD) in the state of Pará, analyzing clinical story and the treatment performed to try to stabilize and avoid worsening quality of life. About data collection were used informations from patient record at the private clinic where she was attended. It was identified a 43 years old female patient with clinical condition of myalgia and muscle weakness that began around the third decade of life and arose proximally, progressively and slowly, compromising her daily tasks. The patient has also presented tetraparesis, electromyography with myophatic potential in all muscles evaluated and high creatinophosphokinase and low GAA activity. She did not have neither respiratory impairment nor cardiomyopathy associated. The patient had inbreeding paternal grandparents and a brother who died with the same symptoms and respiratory failure. Genetic analyses demonstrated C.-32-13T>G mutation that is common in Late Onset Pompe Disease. At the moment, after the period of 17 months of enzyme replacement therapy as well as motor physiotherapy sessions she has been progressing with motor function improvement, without respiratory damage that suggests stabilization of symptoms and recovering patient’s autonomy in her routine.