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Ankle weakness

MedGen UID:
1624738
Concept ID:
C2228039
Finding
HPO: HP:0031374

Definition

Reduced strength of the muscles that lift or otherwise move the foot at the ankle. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAnkle weakness

Conditions with this feature

Charcot-Marie-Tooth disease type 1E
MedGen UID:
501212
Concept ID:
C3495591
Disease or Syndrome
A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the <i>PMP22</i> (17p12) gene. The disease severity depends on the particular <i>PMP22</i> mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.

Professional guidelines

PubMed

Brognara L, Sempere-Bigorra M, Mazzotti A, Artioli E, Julián-Rochina I, Cauli O
J Tissue Viability 2023 Nov;32(4):516-526. Epub 2023 Oct 13 doi: 10.1016/j.jtv.2023.10.002. PMID: 37852919

Recent clinical studies

Etiology

Jang SH, Cho MK
Am J Phys Med Rehabil 2022 Jul 1;101(7):659-665. Epub 2021 Sep 23 doi: 10.1097/PHM.0000000000001881. PMID: 35706118Free PMC Article
Rogati G, Caravaggi P, Leardini A
J Foot Ankle Res 2022 May 19;15(1):38. doi: 10.1186/s13047-022-00547-2. PMID: 35585544Free PMC Article
Baumhauer JF, McIntosh S, Rechtine G
J Bone Joint Surg Am 2013 Feb 6;95(3):209-14. doi: 10.2106/JBJS.K.01467. PMID: 23389783
Olmo J, Jato S, Benito J, Martín I, Dvir Z
J Electromyogr Kinesiol 2009 Oct;19(5):774-81. Epub 2008 Mar 28 doi: 10.1016/j.jelekin.2008.02.001. PMID: 18375145
Andersen H, Jakobsen J
Curr Opin Neurol 1997 Oct;10(5):376-80. doi: 10.1097/00019052-199710000-00004. PMID: 9330882

Diagnosis

Pogemiller K, Garibay E, Pierz K, Acsadi G, Õunpuu S
Gait Posture 2020 Mar;77:236-242. Epub 2020 Feb 1 doi: 10.1016/j.gaitpost.2020.01.027. PMID: 32062403
Hsu JR, Owens JG, DeSanto J, Fergason JR, Kuhn KM, Potter BK, Stinner DJ, Sheu RG, Waggoner SL, Wilken JM, Huang Y, Scharfstein DO, MacKenzie EJ; METRC
J Orthop Trauma 2017 Apr;31 Suppl 1:S56-S62. doi: 10.1097/BOT.0000000000000795. PMID: 28323803
Olmo J, Jato S, Benito J, Martín I, Dvir Z
J Electromyogr Kinesiol 2009 Oct;19(5):774-81. Epub 2008 Mar 28 doi: 10.1016/j.jelekin.2008.02.001. PMID: 18375145
Stone J, Zeman A, Simonotto E, Meyer M, Azuma R, Flett S, Sharpe M
Psychosom Med 2007 Dec;69(9):961-9. Epub 2007 Nov 8 doi: 10.1097/PSY.0b013e31815b6c14. PMID: 17991812
Andersen H, Jakobsen J
Curr Opin Neurol 1997 Oct;10(5):376-80. doi: 10.1097/00019052-199710000-00004. PMID: 9330882

Therapy

Kothari AR, Katkade SM, Kaparthi S, Sancheti PK
JBJS Case Connect 2023 Apr 1;13(2) Epub 2023 May 19 doi: 10.2106/JBJS.CC.22.00416. PMID: 37205782
Hsu JR, Owens JG, DeSanto J, Fergason JR, Kuhn KM, Potter BK, Stinner DJ, Sheu RG, Waggoner SL, Wilken JM, Huang Y, Scharfstein DO, MacKenzie EJ; METRC
J Orthop Trauma 2017 Apr;31 Suppl 1:S56-S62. doi: 10.1097/BOT.0000000000000795. PMID: 28323803
Sman AD, Raymond J, Refshauge KM, Menezes MP, Walker T, Ouvrier RA, Burns J
J Physiother 2014 Mar;60(1):55; discussion 55. Epub 2014 May 9 doi: 10.1016/j.jphys.2013.12.015. PMID: 24856942

Prognosis

Thompson DNP, Spoor J, Schotman M, Maestri S, Craven CL, Desai D
Childs Nerv Syst 2021 Jun;37(6):2025-2031. Epub 2021 Feb 18 doi: 10.1007/s00381-021-05081-3. PMID: 33604718
Marsden J, Stevenson V, McFadden C, Swain I, Taylor P
Neuromodulation 2013 May-Jun;16(3):256-60; discussion 260. Epub 2012 Aug 28 doi: 10.1111/j.1525-1403.2012.00494.x. PMID: 22928622
Gwynne-Jones D, Garneti N, Wyatt M
Foot Ankle Int 2009 Aug;30(8):758-62. doi: 10.3113/FAI.2009.0758. PMID: 19735632
Jackson RJ, Gokaslan ZL
J Neurosurg 2000 Jan;92(1 Suppl):61-70. doi: 10.3171/spi.2000.92.1.0061. PMID: 10616060

Clinical prediction guides

Preston E, Salmon R, de Meillon N, Boom M, Ada L, Mahendran N, Flynn A
Gait Posture 2023 Feb;100:103-106. Epub 2022 Dec 1 doi: 10.1016/j.gaitpost.2022.11.061. PMID: 36508883
Jang SH, Cho MK
Am J Phys Med Rehabil 2022 Jul 1;101(7):659-665. Epub 2021 Sep 23 doi: 10.1097/PHM.0000000000001881. PMID: 35706118Free PMC Article
Thompson DNP, Spoor J, Schotman M, Maestri S, Craven CL, Desai D
Childs Nerv Syst 2021 Jun;37(6):2025-2031. Epub 2021 Feb 18 doi: 10.1007/s00381-021-05081-3. PMID: 33604718
Pogemiller K, Garibay E, Pierz K, Acsadi G, Õunpuu S
Gait Posture 2020 Mar;77:236-242. Epub 2020 Feb 1 doi: 10.1016/j.gaitpost.2020.01.027. PMID: 32062403
Olmo J, Jato S, Benito J, Martín I, Dvir Z
J Electromyogr Kinesiol 2009 Oct;19(5):774-81. Epub 2008 Mar 28 doi: 10.1016/j.jelekin.2008.02.001. PMID: 18375145

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