ISSUES OF DIAGNOSIS AND TREATMENTOF ORPHAN DISEASES.CLINICAL CASE OF LATE-ONSETGLYCOGENOSIS TYPE II IN AN ADULT
The aim of the study is to present management analysis of a patient with Pompe disease belonging to the group of orphan diseases in order to improve its diagnostics, treatment, quality of patient life and reduce the level of mortality from the pathology. Materials and methods. The clinical case of glycogen storage disease type II (Pompe disease) with a late-onset in an adult is presented. The results of medical genetic counseling are quoted, as well as the problem of providing drug treatment to patients with orphan diseases is discussed. Results. The disease symptoms as slowly increasing muscular weakness primarily in paraspinal, pelvic and shoulder girdle muscles are presented. The difficulty of establishing a diagnosis of Pompe disease by primary care physicians is the rarity of glycogen storage disease type II. The characteristics of the discase are the absence of myographic signs of lower limb muscles damage and the prevalence of paraspinal muscles involvement confirmed by needle electromyography.