Physiotherapy and rehabilitation approach in ataxia telangiectasia syndrome: A case report

Abstract

Objective: Ataxia Telangiectasia (AT) also known as Louis-Bar syndrome, is a rare autosomal recessive genetic disease characterized by cerebellar ataxia, oculocutaneous telangiectasias, and immunodeficiency. This disease is characterized by clinical pictures such as balance, coordination, and gait disorder. This case report aims to examine the short-term effects of physiotherapy and rehabilitation practices consisting of balance and gait exercises on a pediatric patient with AT. Case: A 9-year-old girl diagnosed with AT presented with loss of balance. Sociodemographic data of the patient such as age, height, weight, sex, and BMI were recorded. The patient's balance was evaluated with The Pediatric Balance Scale (PBS), The Functional Reach Test (FRT) and The Timed Get Up and Go Test (TUG); the level of functional independence was evaluated with The Pediatric Functional Independence Scale (WeeFIM). The patient received 30 sessions of physiotherapy 4 times per week for 8 weeks, each session 45-60 minutes. Evaluations were made before and after 8 weeks of treatment. Results: The pre-treatment values were found to be PBS 22, FRT 16 cm, TUG 17.2 sec, and WeeFIM 62. Post-treatment values were calculated as PBS 22, FRT 18 cm, TUG 15.6 sec, and WeeFIM 62. Conclusion: The physiotherapy and rehabilitation approach in patients with AT will be effective in improving symptoms such as balance and coordination disorders.