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Friedreich ataxia(FRDA)

MedGen UID:
5276
Concept ID:
C0016719
Disease or Syndrome
Synonyms: FRDA; Friedreich's ataxia; Hereditary spinal ataxia; Hereditary spinal sclerosis; Spinocerebellar ataxia, Friedreich
SNOMED CT: FA - Friedreich ataxia (10394003); Friedreich's ataxia (10394003); Friedreich's disease (10394003); Familial ataxia (10394003); Friedreich ataxia (10394003)
 
Related gene: FXN
 
Monarch Initiative: MONDO:0100339
OMIM®: 229300; 606829

Disease characteristics

Excerpted from the GeneReview: Friedreich Ataxia
Friedreich ataxia (FRDA) is characterized by slowly progressive ataxia with onset usually before age 25 years (mean age at onset: 10-15 yrs). FRDA is typically associated with dysarthria, muscle weakness, spasticity particularly in the lower limbs, scoliosis, bladder dysfunction, absent lower-limb reflexes, and loss of position and vibration sense. Approximately two thirds of individuals with FRDA have cardiomyopathy, up to 30% have diabetes mellitus, and approximately 25% have an "atypical" presentation with later onset or retained tendon reflexes. [from GeneReviews]
Authors:
Sanjay I Bidichandani  |  Martin B Delatycki   view full author information

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Friedreich ataxia in Orphanet.

Professional guidelines

PubMed

Profeta V, McIntyre K, Wells M, Park C, Lynch DR
Expert Opin Investig Drugs 2023 Jan;32(1):5-16. Epub 2023 Feb 8 doi: 10.1080/13543784.2023.2173063. PMID: 36708320
Corben LA, Collins V, Milne S, Farmer J, Musheno A, Lynch D, Subramony S, Pandolfo M, Schulz JB, Lin K, Delatycki MB; Clinical Management Guidelines Writing Group
Orphanet J Rare Dis 2022 Nov 12;17(1):415. doi: 10.1186/s13023-022-02568-3. PMID: 36371255Free PMC Article
Groh WJ, Bhakta D, Tomaselli GF, Aleong RG, Teixeira RA, Amato A, Asirvatham SJ, Cha YM, Corrado D, Duboc D, Goldberger ZD, Horie M, Hornyak JE, Jefferies JL, Kääb S, Kalman JM, Kertesz NJ, Lakdawala NK, Lambiase PD, Lubitz SA, McMillan HJ, McNally EM, Milone M, Namboodiri N, Nazarian S, Patton KK, Russo V, Sacher F, Santangeli P, Shen WK, Sobral Filho DC, Stambler BS, Stöllberger C, Wahbi K, Wehrens XHT, Weiner MM, Wheeler MT, Zeppenfeld K
Heart Rhythm 2022 Oct;19(10):e61-e120. Epub 2022 Apr 29 doi: 10.1016/j.hrthm.2022.04.022. PMID: 35500790

Recent clinical studies

Etiology

Corben LA, Collins V, Milne S, Farmer J, Musheno A, Lynch D, Subramony S, Pandolfo M, Schulz JB, Lin K, Delatycki MB; Clinical Management Guidelines Writing Group
Orphanet J Rare Dis 2022 Nov 12;17(1):415. doi: 10.1186/s13023-022-02568-3. PMID: 36371255Free PMC Article
Lynch DR, Chin MP, Delatycki MB, Subramony SH, Corti M, Hoyle JC, Boesch S, Nachbauer W, Mariotti C, Mathews KD, Giunti P, Wilmot G, Zesiewicz T, Perlman S, Goldsberry A, O'Grady M, Meyer CJ
Ann Neurol 2021 Feb;89(2):212-225. Epub 2020 Nov 5 doi: 10.1002/ana.25934. PMID: 33068037Free PMC Article
Synofzik M, Németh AH
Handb Clin Neurol 2018;155:73-89. doi: 10.1016/B978-0-444-64189-2.00005-6. PMID: 29891078
Paulson H
Handb Clin Neurol 2018;147:105-123. doi: 10.1016/B978-0-444-63233-3.00009-9. PMID: 29325606Free PMC Article
Den Dunnen WFA
Handb Clin Neurol 2017;145:383-391. doi: 10.1016/B978-0-12-802395-2.00027-4. PMID: 28987184

Diagnosis

Coarelli G, Wirth T, Tranchant C, Koenig M, Durr A, Anheim M
J Neurol 2023 Jan;270(1):208-222. Epub 2022 Sep 24 doi: 10.1007/s00415-022-11383-6. PMID: 36152050Free PMC Article
Keita M, McIntyre K, Rodden LN, Schadt K, Lynch DR
Neurodegener Dis Manag 2022 Oct;12(5):267-283. Epub 2022 Jun 29 doi: 10.2217/nmt-2022-0011. PMID: 35766110Free PMC Article
Beaudin M, Manto M, Schmahmann JD, Pandolfo M, Dupre N
Nat Rev Neurol 2022 May;18(5):257-272. Epub 2022 Mar 24 doi: 10.1038/s41582-022-00634-9. PMID: 35332317
Kuo SH
Continuum (Minneap Minn) 2019 Aug;25(4):1036-1054. doi: 10.1212/CON.0000000000000753. PMID: 31356292Free PMC Article
Koeppen AH
J Neurol Sci 2011 Apr 15;303(1-2):1-12. doi: 10.1016/j.jns.2011.01.010. PMID: 21315377Free PMC Article

Therapy

Keita M, McIntyre K, Rodden LN, Schadt K, Lynch DR
Neurodegener Dis Manag 2022 Oct;12(5):267-283. Epub 2022 Jun 29 doi: 10.2217/nmt-2022-0011. PMID: 35766110Free PMC Article
Lynch DR, Chin MP, Delatycki MB, Subramony SH, Corti M, Hoyle JC, Boesch S, Nachbauer W, Mariotti C, Mathews KD, Giunti P, Wilmot G, Zesiewicz T, Perlman S, Goldsberry A, O'Grady M, Meyer CJ
Ann Neurol 2021 Feb;89(2):212-225. Epub 2020 Nov 5 doi: 10.1002/ana.25934. PMID: 33068037Free PMC Article
Zesiewicz TA, Hancock J, Ghanekar SD, Kuo SH, Dohse CA, Vega J
Expert Rev Neurother 2020 Dec;20(12):1215-1228. Epub 2020 Sep 21 doi: 10.1080/14737175.2020.1821654. PMID: 32909841Free PMC Article
Kuo SH
Continuum (Minneap Minn) 2019 Aug;25(4):1036-1054. doi: 10.1212/CON.0000000000000753. PMID: 31356292Free PMC Article
Cook A, Giunti P
Br Med Bull 2017 Dec 1;124(1):19-30. doi: 10.1093/bmb/ldx034. PMID: 29053830Free PMC Article

Prognosis

Lynch DR, Chin MP, Boesch S, Delatycki MB, Giunti P, Goldsberry A, Hoyle JC, Mariotti C, Mathews KD, Nachbauer W, O'Grady M, Perlman S, Subramony SH, Wilmot G, Zesiewicz T, Meyer CJ
Mov Disord 2023 Feb;38(2):313-320. Epub 2022 Nov 29 doi: 10.1002/mds.29286. PMID: 36444905
Coarelli G, Wirth T, Tranchant C, Koenig M, Durr A, Anheim M
J Neurol 2023 Jan;270(1):208-222. Epub 2022 Sep 24 doi: 10.1007/s00415-022-11383-6. PMID: 36152050Free PMC Article
Keita M, McIntyre K, Rodden LN, Schadt K, Lynch DR
Neurodegener Dis Manag 2022 Oct;12(5):267-283. Epub 2022 Jun 29 doi: 10.2217/nmt-2022-0011. PMID: 35766110Free PMC Article
Kuo SH
Continuum (Minneap Minn) 2019 Aug;25(4):1036-1054. doi: 10.1212/CON.0000000000000753. PMID: 31356292Free PMC Article
Koeppen AH
Handb Clin Neurol 2018;154:129-149. doi: 10.1016/B978-0-444-63956-1.00008-4. PMID: 29903436Free PMC Article

Clinical prediction guides

Lynch DR, Chin MP, Boesch S, Delatycki MB, Giunti P, Goldsberry A, Hoyle JC, Mariotti C, Mathews KD, Nachbauer W, O'Grady M, Perlman S, Subramony SH, Wilmot G, Zesiewicz T, Meyer CJ
Mov Disord 2023 Feb;38(2):313-320. Epub 2022 Nov 29 doi: 10.1002/mds.29286. PMID: 36444905
Coarelli G, Wirth T, Tranchant C, Koenig M, Durr A, Anheim M
J Neurol 2023 Jan;270(1):208-222. Epub 2022 Sep 24 doi: 10.1007/s00415-022-11383-6. PMID: 36152050Free PMC Article
Corben LA, Collins V, Milne S, Farmer J, Musheno A, Lynch D, Subramony S, Pandolfo M, Schulz JB, Lin K, Delatycki MB; Clinical Management Guidelines Writing Group
Orphanet J Rare Dis 2022 Nov 12;17(1):415. doi: 10.1186/s13023-022-02568-3. PMID: 36371255Free PMC Article
Lynch DR, Chin MP, Delatycki MB, Subramony SH, Corti M, Hoyle JC, Boesch S, Nachbauer W, Mariotti C, Mathews KD, Giunti P, Wilmot G, Zesiewicz T, Perlman S, Goldsberry A, O'Grady M, Meyer CJ
Ann Neurol 2021 Feb;89(2):212-225. Epub 2020 Nov 5 doi: 10.1002/ana.25934. PMID: 33068037Free PMC Article
Lynch DR, Farmer J, Hauser L, Blair IA, Wang QQ, Mesaros C, Snyder N, Boesch S, Chin M, Delatycki MB, Giunti P, Goldsberry A, Hoyle C, McBride MG, Nachbauer W, O'Grady M, Perlman S, Subramony SH, Wilmot GR, Zesiewicz T, Meyer C
Ann Clin Transl Neurol 2019 Jan;6(1):15-26. Epub 2018 Nov 10 doi: 10.1002/acn3.660. PMID: 30656180Free PMC Article

Recent systematic reviews

Naeije G, Schulz JB, Corben LA
BMC Neurol 2022 Mar 17;22(1):97. doi: 10.1186/s12883-022-02615-3. PMID: 35300598Free PMC Article
Zesiewicz TA, Wilmot G, Kuo SH, Perlman S, Greenstein PE, Ying SH, Ashizawa T, Subramony SH, Schmahmann JD, Figueroa KP, Mizusawa H, Schöls L, Shaw JD, Dubinsky RM, Armstrong MJ, Gronseth GS, Sullivan KL
Neurology 2018 Mar 6;90(10):464-471. Epub 2018 Feb 9 doi: 10.1212/WNL.0000000000005055. PMID: 29440566Free PMC Article
Vogel AP, Folker J, Poole ML
Cochrane Database Syst Rev 2014 Oct 28;(10):CD008953. doi: 10.1002/14651858.CD008953.pub2. PMID: 25348587
Ruano L, Melo C, Silva MC, Coutinho P
Neuroepidemiology 2014;42(3):174-83. Epub 2014 Mar 5 doi: 10.1159/000358801. PMID: 24603320
Corben LA, Georgiou-Karistianis N, Bradshaw JL, Evans-Galea MV, Churchyard AJ, Delatycki MB
Adv Exp Med Biol 2012;769:169-84. doi: 10.1007/978-1-4614-5434-2_11. PMID: 23560311

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