eMedicine Specialties > Neurology > Movement and Neurodegenerative Diseases
Friedreich Ataxia: Follow-up
Updated: Nov 6, 2008
Follow-up
Prognosis
- Health related quality of life (QOL) measures are potentially useful as clinical markers of disease status in Friedreich ataxia (FA).
- The prognosis of FA is poor.
- The disorder is progressive, with a mean duration of 15-20 years.
- More than 95% of patients are wheelchair bound by age 45 years.
- Commonly, patients survive to 25-30 years of age, although some patients have survived into the sixth and seventh decades, especially if they are free of heart disease and diabetes.
- QOL is significantly worse in these individuals compared with population norms. Those with severe disease did not perceive a lower QOL than those with mild or moderate disease except in their physical functioning. A later age of onset and increased disease severity were negatively associated with physical QOL, while increased disease duration was positively associated with mental QOL.10
More on Friedreich Ataxia |
| Overview: Friedreich Ataxia |
| Differential Diagnoses & Workup: Friedreich Ataxia |
| Treatment & Medication: Friedreich Ataxia |
Follow-up: Friedreich Ataxia |
| References |
| « Previous Page |
References
Harding AE, Zilkha KJ. 'Pseudo-dominant' inheritance in Friedreich's ataxia. J Med Genet. Aug 1981;18(4):285-7. [Medline].
Stolle CA, Frackelton EC, McCallum J, Farmer JM, Tsou A, Wilson RB, et al. Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia. Mov Disord. Jul 15 2008;23(9):1303-6. [Medline].
Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med. Oct 17 1996;335(16):1169-75. [Medline].
Kosutic J, Zamurovic D. High-dose beta-blocker hypertrophic cardiomyopathy therapy in a patient with Friedreich ataxia. Pediatr Cardiol. Sep-Oct 2005;26(5):727-30. [Medline].
Li K, Besse EK, Ha D, Kovtunovych G, Rouault TA. Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia. Hum Mol Genet. Aug 1 2008;17(15):2265-73. [Medline].
Trouillas P, Serratrice G, Laplane D, Rascol A, Augustin P, Barroche G, et al. Levorotatory form of 5-hydroxytryptophan in Friedreich's ataxia. Results of a double-blind drug-placebo cooperative study. Arch Neurol. May 1995;52(5):456-60. [Medline].
Di Prospero NA, Baker A, Jeffries N, Fischbeck KH. Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial. Lancet Neurol. Oct 2007;6(10):878-86. [Medline].
Milbrandt TA, Kunes JR, Karol LA. Friedreich's ataxia and scoliosis: the experience at two institutions. J Pediatr Orthop. Mar 2008;28(2):234-8. [Medline].
Goulipian C, Bensoussan L, Viton JM, Milhe-De Bovis V, Ramon J, Delarque A. Orthopedic shoes improve gait in Friedreich's ataxia: a clinical and quantified case study. Eur J Phys Rehabil Med. Mar 2008;44(1):93-8. [Medline].
Wilson CL, Fahey MC, Corben LA, Collins VR, Churchyard AJ, Lamont PJ, et al. Quality of life in Friedreich ataxia: what clinical, social and demographic factors are important?. Eur J Neurol. Sep 2007;14(9):1040-7. [Medline].
Beltinger A, Riffel B, Stöhr M. Somatosensory evoked potentials following median and tibial nerve stimulation in patients with Friedreich's ataxia. Eur Arch Psychiatry Neurol Sci. 1987;236(6):358-63. [Medline].
Chamberlain S, Koenig M, Richter A, Palau F, Pandolfo M. Molecular analysis of the Friedreich's ataxia locus. Adv Neurol. 1993;61:193-204. [Medline].
Currier RD. A treatment for ataxia [editorial]. Arch Neurol. May 1995;52(5):449. [Medline].
Delatycki MB, Williamson R, Forrest SM. Friedreich ataxia: an overview. J Med Genet. Jan 2000;37(1):1-8. [Medline].
Epstein E, Farmer JM, Tsou A, Perlman S, Subramony SH, Gomez CM, et al. Health related quality of life measures in Friedreich Ataxia. J Neurol Sci. Sep 15 2008;272(1-2):123-8. [Medline].
Forrest SM, Knight M, Delatycki MB, et al. The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene. Neurogenetics. Aug 1998;1(4):253-7. [Medline].
Friedman JH. Machado-Joseph disease/spinocerebellar ataxia 3 responsive to buspirone. Mov Disord. Jul 1997;12(4):613-4. [Medline].
Hart PE, Lodi R, Rajagopalan B. Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up. Arch Neurol. Apr 2005;62(4):621-6. [Medline].
Jitpimolmard S, Small J, King RH, Geddes J, Misra P, McLaughlin J, et al. The sensory neuropathy of Friedreich's ataxia: an autopsy study of a case with prolonged survival. Acta Neuropathol. 1993;86(1):29-35. [Medline].
Johnson WG. Friedreich ataxia. Clin Neurosci. 1995;3(1):33-8. [Medline].
Koeppen AH. The hereditary ataxias. J Neuropathol Exp Neurol. Jun 1998;57(6):531-43. [Medline].
Lynch DR, Lech G, Farmer JM, Balcer LJ, Bank W, Chance B, et al. Near infrared muscle spectroscopy in patients with Friedreich's ataxia. Muscle Nerve. May 2002;25(5):664-73. [Medline].
Mello KA, Abbott BP. Effect of sulfamethoxazole and trimethoprim on neurologic dysfunction in a patient with Joseph's disease. Arch Neurol. Feb 1988;45(2):210-3. [Medline].
Pandolfo M. Friedreich's ataxia: new development and perspectives. Generations: The Official Publication of the National Ataxia Foundation. 1999;27(1):6-9.
Sedlak TL, Chandavimol M, Straatman L. Cardiac transplantation: a temporary solution for Friedreich's ataxia-induced dilated cardiomyopathy. J Heart Lung Transplant. Nov 2004;23(11):1304-6. [Medline].
Subramony SH, McDaniel O, Vedanarayanan VV. Very late-onset Friedreich's ataxia. Mov Disord. 1999;14(5):904.
Trouillas P, Takayanagi T, Hallett M. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology. J Neurol Sci. Feb 12 1997;145(2):205-11. [Medline].
Voncken M, Ioannou P, Delatycki MB. Friedreich ataxia-update on pathogenesis and possible therapies. Neurogenetics. Feb 2004;5(1):1-8. [Medline].
Wills AJ, Marsden CD. Fifty Neurologic Cases from the National Hospital. 1999.
Zouari M, Feki M, Ben Hamida C, Larnaout A, Turki I, Belal S, et al. Electrophysiology and nerve biopsy: comparative study in Friedreich's ataxia and Friedreich's ataxia phenotype with vitamin E deficiency. Neuromuscul Disord. Aug 1998;8(6):416-25. [Medline].
Further Reading
Keywords
Friedreich's ataxia, FA, FRDA, inherited ataxia, hereditary ataxia, progressive limb and gait ataxia, dysarthria, loss of joint position and vibration senses, absent tendon reflexes in the legs, extensor plantar responses, loss of ambulation, autosomal recessive ataxia
Follow-up: Friedreich Ataxia