Physiotherapy and hereditary ataxia

Abstract

Introduction: Hereditary ataxia is a group of rare, progressive genetic disorders that affects the neurological system and, in particular, the cerebellum. It results in poor coordination of movement and gait. As there is no curative treatment for hereditary ataxia, physiotherapy is essential for maintaining function and quality of life. Main part: Hereditary ataxia arises secondary to mutations/disease causing variants in a single gene that causes damage to the nervous system. Over 100 different genetic forms of hereditary ataxia have been described if all forms and syndromes are included. Research with new family cohorts continues to identify new forms every year. Patients who have been diagnosed with hereditary ataxia should be offered a comprehensive program of physiotherapy. Individualized assessments and therapy plans are needed because hereditary ataxia is a large and heterogeneous group of diseases. Such a physiotherapy plan aims to teach practical strategies to cope physically with activities of everyday life and includes the use of orthopedic and technical aids and adaptation of the environment. It also aims to maintain and improve function through a focus on balance, coordination, and strength using more specific exercises and training. It is important that the physiotherapist has in-depth knowledge about the diagnosis and collaborates effectively with doctors and other professional in order to provide the most beneficial care. Conclusion: Physiotherapy is an important component for the management of the physical effects of Hereditary Ataxia