Friedreich's ataxia natural history, complications and prognosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D

Overview

The symptoms of Friedreich’s Ataxia usually develop in the second decade of life but the onset of disease may be as early as age 2 years and as late as the 8th decade, and start with progressive ataxia. Common complications of Friedreich’s Ataxia include: Aspiration pneumonia, Hypertrophic cardiomyopathy, Diabetic coma, Embolic stroke, Cerebral haemorrhage, Trauma sequelae and renal failure. The presence of diabetes and dilated cardiomyopathy has a negative impact on survival of patients with Friedreich’s Ataxia. The average age of death of patients with Friedreich’s Ataxia is at 37.5 years. Depending on the extent of the disease progression at the time of diagnosis, the prognosis may vary. The presence of hypertrophic cardiomyopathy is associated with a particularly poor prognosis among patients with Friedreich’s Ataxia.

Natural history, complications and prognosis

Natural History

  • The symptoms of Friedreich’s Ataxia usually develop in the second decade of life but the onset of disease may be as early as age 2 years and as late as the 8th decade, and start with progressive ataxia.[1]

Complications

Prognosis

  • The average age of death of patients with Friedreich’s Ataxia is at 37.5 years.[8]
  • Depending on the extent of the disease progression at the time of diagnosis, the prognosis may vary.
  • The presence of hypertrophic cardiomyopathy is associated with a particularly poor prognosis among patients with Friedreich’s Ataxia.[9]

References

  1. Pandolfo M (March 2009). "Friedreich ataxia: the clinical picture". J. Neurol. 256 Suppl 1: 3–8. doi:10.1007/s00415-009-1002-3. PMID 19283344.
  2. 2.0 2.1 Byard RW, Gilbert JD (October 2017). "Mechanisms of unexpected death and autopsy findings in Friedreich ataxia". Med Sci Law. 57 (4): 192–196. doi:10.1177/0025802417723809. PMID 28803513.
  3. Weidemann F, Störk S, Liu D, Hu K, Herrmann S, Ertl G, Niemann M (August 2013). "Cardiomyopathy of Friedreich ataxia". J. Neurochem. 126 Suppl 1: 88–93. doi:10.1111/jnc.12217. PMID 23859344.
  4. Körner A, Barta L (June 1983). "[Association of diabetes mellitus with Friedreich's ataxia]". Orv Hetil (in Hungarian). 124 (23): 1391–2. PMID 6224121.
  5. 5.0 5.1 5.2 Koeppen AH (April 2011). "Friedreich's ataxia: pathology, pathogenesis, and molecular genetics". J. Neurol. Sci. 303 (1–2): 1–12. doi:10.1016/j.jns.2011.01.010. PMC 3062632. PMID 21315377.
  6. FRIEDMAN JH, ARENGO A (January 1958). "Friedreich's ataxia ascribed to trauma; case report". Dis Nerv Syst. 19 (1): 35–6. PMID 13501109.
  7. Junck L, Gilman S, Gebarski SS, Koeppe RA, Kluin KJ, Markel DS (April 1994). "Structural and functional brain imaging in Friedreich's ataxia". Arch. Neurol. 51 (4): 349–55. PMID 8155012.
  8. Feldman JP, Douvier S, Smail M, Michiels Y, Jahier J, Degrolard M (1990). "[Mother-to-fetus contamination in lower genital tract infection caused by mycoplasma and papillomaviruses]". J Gynecol Obstet Biol Reprod (Paris) (in French). 19 (5): 544–6. PMID 2170494.
  9. Auboiron S, Bauchart D, David L (June 1991). "Separation and determination of polyether carboxylic antibiotics from Streptomyces hygroscopicus NRRL B 1865 by thin-layer chromatography with flame ionization detection". J. Chromatogr. 547 (1–2): 411–8. PMID 1894724.

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