Intensive Multimodal Treatment for A Young Adult with Friedreich Ataxia: A Case Report

Abstract

Background: Friedreich’s ataxia (FRDA) is a progressive, neurodegenerative autosomal recessive disorder affecting multiple systems of the body. Physical therapy has been found to be beneficial for improving function and quality of life in individuals with FRDA. However, there is little evidence supporting specific interventions that would address functional concerns in these patients, and the most optimal rehabilitation strategy has yet to be determined. Case Presentation: The participant was a twenty-six-year-old female who had been diagnosed with FRDA ten years earlier. After discontinuing physical therapy for three years, she started using a wheelchair and her function declined. The primary outcome measures employed to assess FRDA were the scale for assessment and rating of ataxia (SARA) and the functional independence measure (FIM). Other measures included strength, range of motion and neurologic screening. At initial examination, the participant presented with muscle weakness, poor balance and coordination, and mobility restrictions. The patient received intensive physical therapy with five weekly sessions over a period of three months. Interventions focused on coordinative, balance, and strength training activities. Results: The patient demonstrated a 30-point increase in the FIM, a 9-point decrease in the SARA, and amelioration in manual muscle testing scores upon completion of the rehabilitation program. Conclusion: The FRDA patient displayed improvement in all outcome measures. Strength, ataxia severity and functional abilities were enhanced while a higher level of independence was gained. Our observations suggest that an intensive multimodal approach holds potential in the management of FRDA and call for further research. KEYWORDS: Friedreich’s ataxia, Rehabilitation outcomes, Physical therapy.