Friedreich's ataxia natural history, complications and prognosis: Difference between revisions
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==Overview== | ==Overview== | ||
=== Natural History === | === Natural History === | ||
* The symptoms of Friedreich’s Ataxia usually develop in the second decade of life but onset of disease may be as early as age 2 years and as late as the 8th decade, and start with progressive [[Ataxia|ataxiae]]. | * 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|ataxiae]].<ref name="pmid19283344">{{cite journal |vauthors=Pandolfo M |title=Friedreich ataxia: the clinical picture |journal=J. Neurol. |volume=256 Suppl 1 |issue= |pages=3–8 |date=March 2009 |pmid=19283344 |doi=10.1007/s00415-009-1002-3 |url=}}</ref> | ||
=== Complications === | === Complications === | ||
* Common complications of Friedreich’s Ataxia include: | * Common complications of Friedreich’s Ataxia include: | ||
** [[Aspiration pneumonia]] | ** [[Aspiration pneumonia]]<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> | ||
** [[Hypertrophic cardiomyopathy]] | ** [[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]] | ** [[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]] | ** [[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]] | ** [[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 | ** [[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]] | ** [[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. | *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 === | ||
* The average age of death of patients with Friedreich’s Ataxia is at 37.5 years. | * The average age of death of patients with Friedreich’s Ataxia is at 37.5 years.<ref name="pmid2170494">{{cite journal |vauthors=Feldman JP, Douvier S, Smail M, Michiels Y, Jahier J, Degrolard M |title=[Mother-to-fetus contamination in lower genital tract infection caused by mycoplasma and papillomaviruses] |language=French |journal=J Gynecol Obstet Biol Reprod (Paris) |volume=19 |issue=5 |pages=544–6 |date=1990 |pmid=2170494 |doi= |url=}}</ref> | ||
* Depending on the extent of the disease progression at the time of diagnosis, the prognosis may vary. | * 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. | * The presence of [[hypertrophic cardiomyopathy]] is associated with a particularly poor prognosis among patients with Friedreich’s Ataxia.<ref name="pmid1894724">{{cite journal |vauthors=Auboiron S, Bauchart D, David L |title=Separation and determination of polyether carboxylic antibiotics from Streptomyces hygroscopicus NRRL B 1865 by thin-layer chromatography with flame ionization detection |journal=J. Chromatogr. |volume=547 |issue=1-2 |pages=411–8 |date=June 1991 |pmid=1894724 |doi= |url=}}</ref> | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} |
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
- Common complications of Friedreich’s Ataxia include:
- The presence of diabetes and dilated cardiomyopathy has a negative impact on survival of patients with Friedreich’s Ataxia.[5]
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
- ↑ 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.
- ↑ 2.0 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.
- ↑ 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.
- ↑ Körner A, Barta L (June 1983). "[Association of diabetes mellitus with Friedreich's ataxia]". Orv Hetil (in Hungarian). 124 (23): 1391–2. PMID 6224121.
- ↑ 5.0 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.
- ↑ FRIEDMAN JH, ARENGO A (January 1958). "Friedreich's ataxia ascribed to trauma; case report". Dis Nerv Syst. 19 (1): 35–6. PMID 13501109.
- ↑ 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.
- ↑ 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.
- ↑ 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.