Friedreich's ataxia natural history, complications and prognosis: Difference between revisions

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** [[Hypertrophic cardiomyopathy]]<ref name="pmid23859344">{{cite journal |vauthors=Weidemann F, Störk S, Liu D, Hu K, Herrmann S, Ertl G, Niemann M |title=Cardiomyopathy of Friedreich ataxia |journal=J. Neurochem. |volume=126 Suppl 1 |issue= |pages=88–93 |date=August 2013 |pmid=23859344 |doi=10.1111/jnc.12217 |url=}}</ref>
** [[Hypertrophic cardiomyopathy]]<ref name="pmid23859344">{{cite journal |vauthors=Weidemann F, Störk S, Liu D, Hu K, Herrmann S, Ertl G, Niemann M |title=Cardiomyopathy of Friedreich ataxia |journal=J. Neurochem. |volume=126 Suppl 1 |issue= |pages=88–93 |date=August 2013 |pmid=23859344 |doi=10.1111/jnc.12217 |url=}}</ref>
** [[Diabetic coma]]<ref name="pmid6224121">{{cite journal |vauthors=Körner A, Barta L |title=[Association of diabetes mellitus with Friedreich's ataxia] |language=Hungarian |journal=Orv Hetil |volume=124 |issue=23 |pages=1391–2 |date=June 1983 |pmid=6224121 |doi= |url=}}</ref>
** [[Diabetic coma]]<ref name="pmid6224121">{{cite journal |vauthors=Körner A, Barta L |title=[Association of diabetes mellitus with Friedreich's ataxia] |language=Hungarian |journal=Orv Hetil |volume=124 |issue=23 |pages=1391–2 |date=June 1983 |pmid=6224121 |doi= |url=}}</ref>
** [[Embolic stroke]]<ref name="pmid3062632">{{cite journal |vauthors=Marcus AJ, Safier LB, Ullman HL, Islam N, Broekman MJ, Falck JR, Fischer S, von Schacky C |title=Cell-cell interactions in the eicosanoid pathways |journal=Prog. Clin. Biol. Res. |volume=283 |issue= |pages=559–67 |date=1988 |pmid=3062632 |doi= |url=}}</ref>
** [[Embolic stroke]]<ref name="pmid21315377">{{cite journal |vauthors=Koeppen AH |title=Friedreich's ataxia: pathology, pathogenesis, and molecular genetics |journal=J. Neurol. Sci. |volume=303 |issue=1-2 |pages=1–12 |date=April 2011 |pmid=21315377 |pmc=3062632 |doi=10.1016/j.jns.2011.01.010 |url=}}</ref>
** [[Cerebral haemorrhage]]<ref name="pmid28803513">{{cite journal |vauthors=Byard RW, Gilbert JD |title=Mechanisms of unexpected death and autopsy findings in Friedreich ataxia |journal=Med Sci Law |volume=57 |issue=4 |pages=192–196 |date=October 2017 |pmid=28803513 |doi=10.1177/0025802417723809 |url=}}</ref>
** [[Cerebral haemorrhage]]<ref name="pmid28803513">{{cite journal |vauthors=Byard RW, Gilbert JD |title=Mechanisms of unexpected death and autopsy findings in Friedreich ataxia |journal=Med Sci Law |volume=57 |issue=4 |pages=192–196 |date=October 2017 |pmid=28803513 |doi=10.1177/0025802417723809 |url=}}</ref>
** [[Trauma]] sequelae<ref name="pmid13501109">{{cite journal |vauthors=FRIEDMAN JH, ARENGO A |title=Friedreich's ataxia ascribed to trauma; case report |journal=Dis Nerv Syst |volume=19 |issue=1 |pages=35–6 |date=January 1958 |pmid=13501109 |doi= |url=}}</ref><ref name="pmid8155012">{{cite journal |vauthors=Junck L, Gilman S, Gebarski SS, Koeppe RA, Kluin KJ, Markel DS |title=Structural and functional brain imaging in Friedreich's ataxia |journal=Arch. Neurol. |volume=51 |issue=4 |pages=349–55 |date=April 1994 |pmid=8155012 |doi= |url=}}</ref>
** [[Trauma]] sequelae<ref name="pmid13501109">{{cite journal |vauthors=FRIEDMAN JH, ARENGO A |title=Friedreich's ataxia ascribed to trauma; case report |journal=Dis Nerv Syst |volume=19 |issue=1 |pages=35–6 |date=January 1958 |pmid=13501109 |doi= |url=}}</ref><ref name="pmid8155012">{{cite journal |vauthors=Junck L, Gilman S, Gebarski SS, Koeppe RA, Kluin KJ, Markel DS |title=Structural and functional brain imaging in Friedreich's ataxia |journal=Arch. Neurol. |volume=51 |issue=4 |pages=349–55 |date=April 1994 |pmid=8155012 |doi= |url=}}</ref>
** [[Renal failure]]<ref name="pmid3062632">{{cite journal |vauthors=Marcus AJ, Safier LB, Ullman HL, Islam N, Broekman MJ, Falck JR, Fischer S, von Schacky C |title=Cell-cell interactions in the eicosanoid pathways |journal=Prog. Clin. Biol. Res. |volume=283 |issue= |pages=559–67 |date=1988 |pmid=3062632 |doi= |url=}}</ref>
** [[Renal failure]]<ref name="pmid21315377">{{cite journal |vauthors=Koeppen AH |title=Friedreich's ataxia: pathology, pathogenesis, and molecular genetics |journal=J. Neurol. Sci. |volume=303 |issue=1-2 |pages=1–12 |date=April 2011 |pmid=21315377 |pmc=3062632 |doi=10.1016/j.jns.2011.01.010 |url=}}</ref>
*The presence of [[diabetes]] and [[dilated cardiomyopathy]] has a negative impact on survival of patients with Friedreich’s Ataxia.<ref name="pmid3062632">{{cite journal |vauthors=Marcus AJ, Safier LB, Ullman HL, Islam N, Broekman MJ, Falck JR, Fischer S, von Schacky C |title=Cell-cell interactions in the eicosanoid pathways |journal=Prog. Clin. Biol. Res. |volume=283 |issue= |pages=559–67 |date=1988 |pmid=3062632 |doi= |url=}}</ref>
*The presence of [[diabetes]] and [[dilated cardiomyopathy]] has a negative impact on survival of patients with Friedreich’s Ataxia.<ref name="pmid21315377">{{cite journal |vauthors=Koeppen AH |title=Friedreich's ataxia: pathology, pathogenesis, and molecular genetics |journal=J. Neurol. Sci. |volume=303 |issue=1-2 |pages=1–12 |date=April 2011 |pmid=21315377 |pmc=3062632 |doi=10.1016/j.jns.2011.01.010 |url=}}</ref>


=== Prognosis ===
=== Prognosis ===

Revision as of 17:31, 22 April 2019

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[[2]]

Overview

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 ataxiae.[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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