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Progressive pes cavus

MedGen UID:
337485
•Concept ID:
C1846017
•
Finding

Professional guidelines

PubMed

Conservative versus neurosurgical treatment of tethered cord patients.
Lagae L, Verpoorten C, Casaer P, Vereecken R, Fabry G, Plets C
Z Kinderchir 1990 Dec;45 Suppl 1:16-7. doi: 10.1055/s-2008-1042626. PMID: 2293528

Recent clinical studies

Etiology

Pharmacological treatments for Friedreich ataxia.
Kearney M, Orrell RW, Fahey M, Brassington R, Pandolfo M
Cochrane Database Syst Rev 2016 Aug 30;2016(8):CD007791. doi: 10.1002/14651858.CD007791.pub4. PMID: 27572719Free PMC Article
The indications and technique for surgical correction of pes cavus with external fixation.
Lee K, Cho JH, Lee WC
Foot Ankle Clin 2013 Dec;18(4):743-53. doi: 10.1016/j.fcl.2013.08.011. PMID: 24215837
The intoeing child: etiology, prognosis, and current treatment options.
Harris E
Clin Podiatr Med Surg 2013 Oct;30(4):531-65. Epub 2013 Jul 31 doi: 10.1016/j.cpm.2013.07.002. PMID: 24075135
Cavus foot, from neonates to adolescents.
Wicart P
Orthop Traumatol Surg Res 2012 Nov;98(7):813-28. Epub 2012 Oct 23 doi: 10.1016/j.otsr.2012.09.003. PMID: 23098772
Charcot-Marie-Tooth disease.
Buteică E, Roşulescu E, Stănoiu B, Burada F, Stănoiu C, Zăvăleanu M
Rom J Morphol Embryol 2008;49(1):115-9. PMID: 18273515

Diagnosis

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Calame DG, Moreno Vadillo C, Berger S, Lotze T, Shinawi M, Poupak J, Heller C, Cohen J, Person R, Telegrafi A, Phitsanuwong C, Fiala K, Thiffault I, Del Viso F, Zhou D, Fleming EA, Pastinen T, Fatemi A, Thomas S, Pascual SI, Torres RJ, Prior C, Gómez-González C, Biskup S, Lupski JR, Maric D, Holmgren M, Regier D, Yano ST
Brain 2023 Aug 1;146(8):3162-3171. doi: 10.1093/brain/awad124. PMID: 37043503Free PMC Article
Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.
Pavone P, Pappalardo XG, Ruggieri M, Falsaperla R, Parano E
Medicine (Baltimore) 2022 Aug 5;101(31):e29413. doi: 10.1097/MD.0000000000029413. PMID: 35945798Free PMC Article
Neuromuscular diseases: Diagnosis and management.
Mary P, Servais L, Vialle R
Orthop Traumatol Surg Res 2018 Feb;104(1S):S89-S95. Epub 2017 Nov 28 doi: 10.1016/j.otsr.2017.04.019. PMID: 29196274
Clinical neurogenetics: friedreich ataxia.
Collins A
Neurol Clin 2013 Nov;31(4):1095-120. doi: 10.1016/j.ncl.2013.05.002. PMID: 24176426
Charcot-Marie-Tooth disease.
Buteică E, Roşulescu E, Stănoiu B, Burada F, Stănoiu C, Zăvăleanu M
Rom J Morphol Embryol 2008;49(1):115-9. PMID: 18273515

Therapy

Pharmacological treatments for Friedreich ataxia.
Kearney M, Orrell RW, Fahey M, Brassington R, Pandolfo M
Cochrane Database Syst Rev 2016 Aug 30;2016(8):CD007791. doi: 10.1002/14651858.CD007791.pub4. PMID: 27572719Free PMC Article
The indications and technique for surgical correction of pes cavus with external fixation.
Lee K, Cho JH, Lee WC
Foot Ankle Clin 2013 Dec;18(4):743-53. doi: 10.1016/j.fcl.2013.08.011. PMID: 24215837
Antioxidants and other pharmacological treatments for Friedreich ataxia.
Kearney M, Orrell RW, Fahey M, Pandolfo M
Cochrane Database Syst Rev 2012 Apr 18;(4):CD007791. doi: 10.1002/14651858.CD007791.pub3. PMID: 22513953
Randomized trial of botulinum toxin to prevent pes cavus progression in pediatric Charcot-Marie-Tooth disease type 1A.
Burns J, Scheinberg A, Ryan MM, Rose KJ, Ouvrier RA
Muscle Nerve 2010 Aug;42(2):262-7. doi: 10.1002/mus.21685. PMID: 20544937
Antioxidants and other pharmacological treatments for Friedreich ataxia.
Kearney M, Orrell RW, Fahey M, Pandolfo M
Cochrane Database Syst Rev 2009 Oct 7;(4):CD007791. doi: 10.1002/14651858.CD007791.pub2. PMID: 19821439

Prognosis

Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.
Pavone P, Pappalardo XG, Ruggieri M, Falsaperla R, Parano E
Medicine (Baltimore) 2022 Aug 5;101(31):e29413. doi: 10.1097/MD.0000000000029413. PMID: 35945798Free PMC Article
Charcot-Marie-Tooth neuropathy score and ambulation index are both predictors of orthotic need for patients with CMT.
Prada V, Zuccarino R, Schenone C, Mennella G, Grandis M, Shy ME, Schenone A
Neurol Sci 2022 Apr;43(4):2759-2764. Epub 2021 Oct 6 doi: 10.1007/s10072-021-05646-9. PMID: 34613504Free PMC Article
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion.
Echaniz-Laguna A, Cuisset JM, Guyant-Marechal L, Aubourg P, Kremer L, Baaloul N, Verloes A, Beladgham K, Perrot J, Francou B, Latour P
Neurogenetics 2020 Jan;21(1):29-37. Epub 2019 Oct 26 doi: 10.1007/s10048-019-00596-z. PMID: 31655922
Neuromuscular diseases: Diagnosis and management.
Mary P, Servais L, Vialle R
Orthop Traumatol Surg Res 2018 Feb;104(1S):S89-S95. Epub 2017 Nov 28 doi: 10.1016/j.otsr.2017.04.019. PMID: 29196274
The intoeing child: etiology, prognosis, and current treatment options.
Harris E
Clin Podiatr Med Surg 2013 Oct;30(4):531-65. Epub 2013 Jul 31 doi: 10.1016/j.cpm.2013.07.002. PMID: 24075135

Clinical prediction guides

EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.
Echaniz-Laguna A, Cauquil C, Chanson JB, Tard C, Guyant-Marechal L, Kuntzer T, Ion IM, Lia AS, Bouligand J, Poinsignon V
J Peripher Nerv Syst 2023 Sep;28(3):359-367. Epub 2023 Jun 18 doi: 10.1111/jns.12572. PMID: 37306961
Charcot-Marie-Tooth neuropathy score and ambulation index are both predictors of orthotic need for patients with CMT.
Prada V, Zuccarino R, Schenone C, Mennella G, Grandis M, Shy ME, Schenone A
Neurol Sci 2022 Apr;43(4):2759-2764. Epub 2021 Oct 6 doi: 10.1007/s10072-021-05646-9. PMID: 34613504Free PMC Article
Pharmacological treatments for Friedreich ataxia.
Kearney M, Orrell RW, Fahey M, Brassington R, Pandolfo M
Cochrane Database Syst Rev 2016 Aug 30;2016(8):CD007791. doi: 10.1002/14651858.CD007791.pub4. PMID: 27572719Free PMC Article
The intoeing child: etiology, prognosis, and current treatment options.
Harris E
Clin Podiatr Med Surg 2013 Oct;30(4):531-65. Epub 2013 Jul 31 doi: 10.1016/j.cpm.2013.07.002. PMID: 24075135
X-linked scapuloperoneal syndrome.
Thomas PK, Calne DB, Elliott CF
J Neurol Neurosurg Psychiatry 1972 Apr;35(2):208-15. doi: 10.1136/jnnp.35.2.208. PMID: 4113956Free PMC Article

Recent systematic reviews

Early Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia-Review of the Literature and a New Family.
Duat Rodriguez A, Prochazkova M, Santos Santos S, Rubio Cabezas O, Cantarin Extremera V, Gonzalez-Gutierrez-Solana L
Pediatr Neurol 2017 Jun;71:60-64. Epub 2017 Jan 25 doi: 10.1016/j.pediatrneurol.2017.01.009. PMID: 28483396
Pharmacological treatments for Friedreich ataxia.
Kearney M, Orrell RW, Fahey M, Brassington R, Pandolfo M
Cochrane Database Syst Rev 2016 Aug 30;2016(8):CD007791. doi: 10.1002/14651858.CD007791.pub4. PMID: 27572719Free PMC Article
Antioxidants and other pharmacological treatments for Friedreich ataxia.
Kearney M, Orrell RW, Fahey M, Pandolfo M
Cochrane Database Syst Rev 2012 Apr 18;(4):CD007791. doi: 10.1002/14651858.CD007791.pub3. PMID: 22513953
Antioxidants and other pharmacological treatments for Friedreich ataxia.
Kearney M, Orrell RW, Fahey M, Pandolfo M
Cochrane Database Syst Rev 2009 Oct 7;(4):CD007791. doi: 10.1002/14651858.CD007791.pub2. PMID: 19821439

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