Friedreich’s ataxia (FA): monitoring
Evidence-based neurology checklist on friedreich’s ataxia (fa): monitoring: Annual surveillance Electrocardiogram (ECG) 24-hour ECG: if there are palpitations Echocardiogram Blood glucose Oral glucose tolerance test Audiology assessment Epworth Sleepiness Scale (ESS): for sleep disordered…
Annual surveillance
- Electrocardiogram (ECG)
- 24-hour ECG: if there are palpitations
- Echocardiogram
- Blood glucose
- Oral glucose tolerance test
- Audiology assessment
- Epworth Sleepiness Scale (ESS): for sleep disordered breathing
Scoliosis screening
Friedreich’s ataxia monitoring scales
Indications for cardiology referral
References
- Palau F, Espinos C. Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis 2006; 1:47.
- Bhidayasiri R, Perlman SL, Pulst SM, Geschwind DH. Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature. Arch Neurol 2005; 62:1865-1869.
- Waldvogel D, van Gelderen P, Hallett M. Increased iron in the dentate nucleus of patients with Friedrich's ataxia. Ann Neurol 1999; 46:123-125.
- Bürk K, Schulz SR, Schulz JB. Monitoring progression in Friedreich ataxia (FRDA): the use of clinical scales. J Neurochem 2013; 126(Suppl 1):118-124.
- Fahey MC, Corben L, Collins V, Churchyard AJ, Delatycki MB. How is disease progress in Friedreich's ataxia best measured? A study of four rating scales. JNNP 2007; 78:411-413.
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