From: Consensus clinical management guidelines for Friedreich ataxia
1 | Overview of Friedreich Ataxia |
2 | The neurological components of Friedreich Ataxia |
2.1 | Ataxia |
2.2 | Weakness |
2.3 | Neuropathy |
2.4 | Spasticity and muscle spasm |
2.5 | Restless legs |
2.6 | Mobility |
2.7 | Dysarthria |
2.8 | Dysphagia |
2.9 | Vision |
2.10 | Bladder function |
2.11 | Bowel function |
2.12 | Sexual function |
2.13 | Audiological function |
2.14 | Cognition |
2.15 | Rehabilitation |
3 | The heart, cardiovascular and respiratory systems in Friedreich Ataxia |
3.1 | The heart |
3.2 | Sleep |
3.3 | Pain management and anesthesia |
4 | Scoliosis |
5 | Diabetes Mellitus |
6 | Genetic Issues |
7 | Friedreich Ataxia due to compound heterozygosity for a FXN intron 1 GAA expansion and point mutation/insertion/deletion |
8 | Pregnancy issues |
9 | Quality of life issues |
9.1 | Overview of quality of life in Friedreich Ataxia |
9.2 | Mental health issues |
9.3 | Provision of wheelchairs and seating systems |
9.4 | Independence issues |
9.5 | Advance care planning and end of life |
9.6 | Palliative care |
9.7 | Potential medications/compounds for use in Friedreich Ataxia |