Reference library
Clinical Management Guidelines for Friedreich Ataxia
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1 Overview of Friedreich ataxia
- 1.1 Clinical Features of Friedreich ataxia
- 1.2 Genetics and pathophysiology of Friedreich ataxia
- 1.3 Genotype phenotype correlations in Friedreich ataxia
- 1.4 Neuromorphology of the nervous system in Friedreich ataxia
- 1.5 Early diagnosis of Friedreich ataxia
- 1.6 Overview of quality of life in Friedreich ataxia
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2 Potential disease modifying therapies for Friedreich ataxia
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3 Neurological components of Friedreich ataxia
- 3.1 Upper limb dysfunction in Friedreich ataxia
- 3.2 Strength, balance, mobility and reduction of falls in ambulant individuals with Friedreich ataxia
- 3.3 Strength, balance, mobility and reduction of falls in non-ambulant individuals with Friedreich ataxia
- 3.4 Spasticity and spasms in Friedreich ataxia
- 3.5 Dysarthria in Friedreich ataxia
- 3.6 Dysphagia in Friedreich ataxia
- 3.7 Vision in Friedreich ataxia
- 3.8 Lower urinary tract and bowel function in Friedreich ataxia
- 3.9 Sexual function in Friedreich ataxia
- 3.10 Auditory and vestibular function in Friedreich ataxia
- 3.11 Cognitive function in Friedreich ataxia
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4 The heart and cardiovascular system in Friedreich ataxia
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5 Surgical and anesthetic considerations in Friedreich ataxia
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6 Pulmonary function and sleep disturbance in Friedreich ataxia
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7 Fatigue in Friedreich ataxia
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8 Pain in Friedreich ataxia
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9 Orthopedic issues in Friedreich ataxia
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10 Endocrine and metabolic issues in Friedreich ataxia
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11 Genetic issues in Friedreich ataxia
- 11.1 Genetics of Friedreichs ataxia
- 11.2 Management of testing for adult siblings of a person with Friedreich ataxia
- 11.3 Management of testing for minor siblings of a person with Friedreich ataxia
- 11.4 Management of testing for other relatives of a person with Friedreich ataxia
- 11.5 Management of questions related to GAA repeat size in Friedreich ataxia
- 11.6 Optimal genetic support services for individuals with Friedreich ataxia and their families
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12 Friedreich ataxia due to compound heterozygosity
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13 Family planning and pregnancy in Friedreich ataxia
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14 Mental health issues in Friedreich ataxia
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15 Emergency department presentations for Friedreich ataxia
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16 Digital and assistive technologies in Friedreich ataxia
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17 End-of-life care in Friedreich ataxia