Tuberous Sclerosis Complex: A Narrative Review
Rakesh V. M.
R L Jalappa Hospital and Research Centre, Tamaka-Kolar, Karnataka, India.
Thillaivignesh Balasubramanian *
Department of Physiotherapy, Sri Devaraj URS Academy of Higher Education and Research, Tamaka-Kolar, Karnataka, India.
*Author to whom correspondence should be addressed.
Abstract
Tuberous sclerosis complex (TSC) is a rare genetic multisystem disorder characterised by the development of benign tumours (hamartomas) in multiple organs, including the brain, kidneys, skin, heart, lungs, and eyes. The condition results from mutations in the TSC1 or TSC2 genes, leading to dysregulation of the mechanistic target of rapamycin (mTOR) pathway and abnormal cellular proliferation. Clinical manifestations are highly variable and commonly include seizures, developmental delay, dermatological lesions, and renal or pulmonary complications. Due to its multisystem involvement, management of TSC requires a multidisciplinary approach. Physiotherapy plays an important supportive role in addressing neurological, musculoskeletal, and pulmonary impairments associated with the disorder. Interventions such as neurodevelopmental training, strengthening exercises, postural correction, and respiratory therapy may improve functional mobility, motor development, and overall quality of life. Early diagnosis and comprehensive rehabilitation strategies are essential to optimise long-term outcomes in individuals with TSC. An extensive literature search was made in Google Scholar, PubMed, TRIP database, and the research papers, articles and chapters related to Tuberous Sclerosis Complex were included in the study.
Keywords: Tuberous sclerosis complex (TSC), physiotherapy rehabilitation, mTOR pathway, hamartomas, multidisciplinary management