OP287 PHYSIATRIC APPROACH TO NEUROMUSCULAR GENETIC DISEASES: THE CASE STUDY OF A FAMILY AFFECTED BY POMPE DISEASE

Introduction: Pompe disease or glycogenosis type Ii is an autosomal recessive storage disorder due to mutations of the acid a-glucosidase gene on the chromosome 17q21-23 which causes absent or deficient activity of the lysosomal enzyme acide a-glucosidase. The late onset phenotype leads to limb-girdle weakness and respiratory problems. The introduction of enzyme replacement therapy has significantly improved the treatment of patients with Pompe disease changing their life perspective. Therefore more attention should be paid to the rehabilitative aspects. Purpose: The aim of our paper is to assess functioning and musculo-skeletal involvement in a group of patients presenting late-onset Pompe disease. Method: In a family of 13 siblings of which 10 affected by late-onset Pompe disease, we studied 7 siblings that presented the same genotype (p.R40X/p.N882fs). All patients underwent the following assessment: Range of Motion, muscle function, bone mineral status, pain, fatigue, balance, gait, abilities in ADLs and health related quality of life. Results: The seven siblings (4 females and 3 males) analyzed in the present study had a mean (SD) age of 52 (6.2) years. They received diagnosis of Pompe disease and started ERT on 2011. Four siblings were osteopenic, 1 of them, a female, was osteoporotic and had 2 vertebral fragility fractures. They all had proximal muscle weakness of lower limbs resulting in a waddling gait, one of them needed physical assistance for walking. Discussion and conclusions: Our 7 patients were siblings characterized by a moderate proximal weakness, a waddling gait, an exercise intolerance and an easy fatigability, one of them also had respiratory insufficiency.