S Parab, M Bose, A Mahajan, P Kumar

Abstract

Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disorder marked by hypopigmented skin, silver hair, and impairments in both immunological and neurological functions, which hinder functional independence and daily activities. Present case report investigates the impact of a four-week, personalised physiotherapy program focused on core activation, balance training, and functional strengthening. The evaluation utilised outcome measures such as the strength assessment, Gross Motor Function Measure, Trunk Control Measurement Scale, Paediatric Berg Balance Scale, and Functional Independence Measure for Children. Results following the intervention revealed notable enhancements in muscle strength, trunk control, balance, and functional independence. These findings emphasize the potential role of targeted physiotherapy in the holistic management of GS2, advocating for its importance in improving neuromotor performance and achieving optimal functional outcomes for affected individuals.