IJSR International Journal of Scientific Research 2277 - 8179 Indian Society for Health and Advanced Research ijsr-8-6-19667 Original Research Paper PROFILING SPEECH, LANGUAGE AND SWALLOWING CHARACTERISTICS IN INFANTILE POMPE DISEASE – A SINGLE CASE STUDY Priya S Dr. June 2019 8 6 01 02 ABSTRACT

Pompe disease is a rare progressive neuromuscular genetic disorder caused by the deficiency of enzyme Acid Alpha–Glucosidase (AAG), that accumulates lysosomal glycogen in multiple tissue and cell types which affects skeletal, cardiac and smooth muscle cells. This case report discusses about a child who is diagnosed with Pompe disease who presented with various speech, language and swallowing difficulties. Assessment and management of speech, language and swallowing functions of the child were documented.