PROFILING SPEECH, LANGUAGE AND SWALLOWING CHARACTERISTICS IN INFANTILE POMPE DISEASE – A SINGLE CASE STUDY

Rishabha Priya S; Sangeetha Ganesan

Volume : VIII, Issue : VI, June - 2019

PROFILING SPEECH, LANGUAGE AND SWALLOWING CHARACTERISTICS IN INFANTILE POMPE DISEASE – A SINGLE CASE STUDY

Rishabha Priya S, Sangeetha Ganesan

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.