Table of Contents

Chapter Overview
Topic 1.1 Clinical features of Friedreich ataxia
Topic 1.2 Genetics and pathophysiology of Friedreich ataxia
Topic 1.3 Genotype phenotype correlations in Friedreich ataxia
Topic 1.4 Neuromorphology of the nervous system in Friedreich ataxia
Topic 1.5 Early diagnosis of Friedreich ataxia
Topic 1.6 Overview of quality of life in Friedreich ataxia

Chapter Overview
Topic 2.1 History of examining modifying therapies
Topic 2.2 Potential targets for therapies
Topic 2.3 Therapies under investigation

Chapter Overview
Topic 3.1 Upper limb dysfunction in Friedreich ataxia
Topic 3.2 Strength, balance, mobility and reduction of falls in ambulant individuals with Friedreich ataxia
Topic 3.3 Strength, balance, mobility and reduction of falls in non-ambulant individuals with Friedreich ataxia
Topic 3.4 Spasticity and spasms in Friedreich ataxia
Topic 3.5 Dysarthria in Friedreich ataxia
Topic 3.6 Dysphagia in Friedreich ataxia
Topic 3.7 Vision in Friedreich ataxia
Topic 3.8 Lower urinary tract and bowel function in Friedreich ataxia
Topic 3.9 Disturbance of sexual function in Friedreich ataxia
Topic 3.10 Auditory and vestibular function in Friedreich ataxia
Topic 3.11 Cognitive function in Friedreich ataxia

Chapter Overview
Topic 4.1 Overview of the heart effects of Friedreich ataxia
Topic 4.2 Surveillance strategies to monitor cardiac function in Friedreich ataxia
Topic 4.3 Management strategies for arrhythmias in Friedreich ataxia
Topic 4.4 Management strategies for heart failure

Chapter Overview
Topic 5.1 Management strategies for monitoring cardiac function peri-operatively
Topic 5.2 Strategies for fluid and operative management – fluids
Topic 5.3 Strategies for fluid and operative management – early mobilization
Topic 5.4 Strategies for fluid and operative management – anesthesia

Chapter Overview
Topic 6.1 Reduced pulmonary function and pulmonary infection
Topic 6.2 Breathing related sleep disturbance and nocturnal hypoventilation
Topic 6.3 Restless legs and/or sleep related periodic limb movements

Chapter Overview
Topic 7.1 The effects of Friedreich ataxia on fatigue and functional consequences
Topic 7.2 Management of fatigue

Chapter Overview
Topic 8.1 Overview of pain in Friedreich ataxia
Topic 8.2 Pain related to neuropathy
Topic 8.3 Pain not related to neuropathy

Chapter Overview
Topic 9.1 Overview of orthopedic issues in Friedreich ataxia
Topic 9.2. Management strategies for scoliosis in Friedreich ataxia
Topic 9.3 Management strategies for foot deformity in Friedreich ataxia

Chapter Overview
Topic 10.1 Screening and management of diabetes mellitus in Friedreich ataxia
Topic 10.2 Screening and management of osteoporosis in Friedreich ataxia
Topic 10.3 Assessing nutritional status in Friedreich ataxia

Chapter Overview
Topic 11.1 Genetics of Friedreich ataxia
Topic 11.2 Management of testing for adult siblings of a person with Friedreich ataxia
Topic 11.3 Management of testing for minor siblings of a person with Friedreich ataxia
Topic 11.4 Management of testing for other relatives of a person with Friedreich ataxia
Topic 11.5 Management of questions related to GAA repeat size in Friedreich ataxia
Topic 11.6 Optimal genetic support services for individuals with Friedreich ataxia and their families

Chapter Overview
Topic 12.1 Overview of mutations other than the FXN intron 1 GAA expansion
Topic 12.2 Management for individuals with compound heterozygosity

Chapter Overview
Topic 13.1 Overview of family planning and pregnancy issues in Friedreich ataxia
Topic 13.2 Planning for pregnancy
Topic 13.3 Cardiac considerations for women planning for pregnancy
Topic 13.4 Management during pregnancy and delivery
Topic 13.5 Management during the post-partum period

Chapter Overview
Topic 14.1 Literature review of prevalence of mental health issues in Friedreich ataxia
Topic 14.2 Management of depression in Friedreich ataxia
Topic 14.3 Management of anxiety in Friedreich ataxia
Topic 14.4 Management of psychosis in Friedreich ataxia

Chapter Overview
Topic 15.1 Emergency department presentation with chest pain in Friedreich ataxia
Topic 15.2 Other presentations to the emergency department with Friedreich ataxia

Chapter Overview
Topic 16.1 The impact of Friedreich ataxia on independent living
Topic 16.2 The role of digital and assistive technologies in improving independence
Topic 16.3 Considerations for prescribing wheelchair and seating systems

Chapter Overview
Topic 17.1 Advance care planning
Topic 17.2 Palliative care
Topic 17.3 End of life care