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Increased laxity of ankles

MedGen UID:
376895
Concept ID:
C1850854
Finding
HPO: HP:0006460

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased laxity of ankles

Conditions with this feature

Ullrich congenital muscular dystrophy 1A
MedGen UID:
98046
Concept ID:
C0410179
Disease or Syndrome
Collagen VI-related dystrophies (COL6-RDs) represent a continuum of overlapping clinical phenotypes with Bethlem muscular dystrophy at the milder end, Ullrich congenital muscular dystrophy (UCMD) at the more severe end, and a phenotype in between UCMD and Bethlem muscular dystrophy, referred to as intermediate COL6-RD. Bethlem muscular dystrophy is characterized by a combination of proximal muscle weakness and joint contractures. Hypotonia and delayed motor milestones occur in early childhood; mild hypotonia and weakness may be present congenitally. By adulthood, there is evidence of proximal weakness and contractures of the elbows, Achilles tendons, and long finger flexors. The progression of weakness is slow, and more than two thirds of affected individuals older than age 50 years remain independently ambulatory indoors, while relying on supportive means for mobility outdoors. Respiratory involvement is not a consistent feature. UCMD is characterized by congenital weakness, hypotonia, proximal joint contractures, and striking hyperlaxity of distal joints. Decreased fetal movements are frequently reported. Some affected children acquire the ability to walk independently; however, progression of the disease results in a loss of ambulation by age ten to eleven years. Early and severe respiratory insufficiency occurs in all individuals, resulting in the need for nocturnal noninvasive ventilation (NIV) in the form of bilevel positive airway pressure (BiPAP) by age 11 years. Intermediate COL6-RD is characterized by independent ambulation past age 11 years and respiratory insufficiency that is later in onset than in UCMD and results in the need for NIV in the form of BiPAP by the late teens to early 20s. In contrast to individuals with Bethlem muscular dystrophy, those with intermediate COL6-RD typically do not achieve the ability to run, jump, or climb stairs without use of a railing.

Professional guidelines

PubMed

Marsh JS, Daigneault JP, Polzhofer GK
J Pediatr Orthop 2006 Jan-Feb;26(1):94-9. doi: 10.1097/01.bpo.0000189009.73444.a8. PMID: 16439911

Recent clinical studies

Etiology

Raj RD, Fontalis A, Grandhi TSP, Kim WJ, Gabr A, Haddad FS
Bone Joint J 2023 Jul 1;105-B(7):723-728. doi: 10.1302/0301-620X.105B7.BJJ-2022-1262.R2. PMID: 37391203
Tsikopoulos K, Sidiropoulos K, Kitridis D, Cain Atc SM, Metaxiotis D, Ali A
Clin Orthop Relat Res 2020 Feb;478(2):359-377. doi: 10.1097/CORR.0000000000000946. PMID: 31625960Free PMC Article
Cao Y, Hong Y, Xu Y, Zhu Y, Xu X
J Orthop Surg Res 2018 Jun 25;13(1):159. doi: 10.1186/s13018-018-0870-6. PMID: 29940985Free PMC Article
Dallinga JM, Benjaminse A, Lemmink KA
Sports Med 2012 Sep 1;42(9):791-815. doi: 10.1007/BF03262295. PMID: 22909185
Alentorn-Geli E, Myer GD, Silvers HJ, Samitier G, Romero D, Lázaro-Haro C, Cugat R
Knee Surg Sports Traumatol Arthrosc 2009 Jul;17(7):705-29. Epub 2009 May 19 doi: 10.1007/s00167-009-0813-1. PMID: 19452139

Diagnosis

Dalmau-Pastor M, El-Daou H, Stephen JM, Vega J, Malagelada F, Calder J
Am J Sports Med 2023 Jul;51(8):2169-2175. Epub 2023 May 26 doi: 10.1177/03635465231172196. PMID: 37232327
Tsikopoulos K, Sidiropoulos K, Kitridis D, Cain Atc SM, Metaxiotis D, Ali A
Clin Orthop Relat Res 2020 Feb;478(2):359-377. doi: 10.1097/CORR.0000000000000946. PMID: 31625960Free PMC Article
Czaprowski D, Kotwicki T, Stoliński L
Ortop Traumatol Rehabil 2012 Sep-Oct;14(5):407-20. doi: 10.5604/15093492.1016368. PMID: 23208932
Dallinga JM, Benjaminse A, Lemmink KA
Sports Med 2012 Sep 1;42(9):791-815. doi: 10.1007/BF03262295. PMID: 22909185
Wolf JM, Cameron KL, Owens BD
J Am Acad Orthop Surg 2011 Aug;19(8):463-71. doi: 10.5435/00124635-201108000-00002. PMID: 21807914

Therapy

Brady AW, Bryniarski A, Brown JR, Waltz R, Stake IK, Kreulen CD, Haytmanek CT, Clanton TO
Am J Sports Med 2023 Aug;51(10):2617-2624. Epub 2023 Jul 14 doi: 10.1177/03635465231181082. PMID: 37449714
Tsikopoulos K, Sidiropoulos K, Kitridis D, Cain Atc SM, Metaxiotis D, Ali A
Clin Orthop Relat Res 2020 Feb;478(2):359-377. doi: 10.1097/CORR.0000000000000946. PMID: 31625960Free PMC Article
Cao Y, Hong Y, Xu Y, Zhu Y, Xu X
J Orthop Surg Res 2018 Jun 25;13(1):159. doi: 10.1186/s13018-018-0870-6. PMID: 29940985Free PMC Article
Zech A, Hübscher M, Vogt L, Banzer W, Hänsel F, Pfeifer K
Med Sci Sports Exerc 2009 Oct;41(10):1831-41. doi: 10.1249/MSS.0b013e3181a3cf0d. PMID: 19727032
Myerson MS, Badekas A
Foot Ankle Clin 2000 Sep;5(3):469-84. PMID: 11232392

Prognosis

Lefranc AS, Klute GK, Neptune RR
J Appl Biomech 2023 Dec 1;39(6):403-413. Epub 2023 Sep 13 doi: 10.1123/jab.2023-0013. PMID: 37704197
Wada M, Miyazaki T, Yamamoto Y, Sakamoto T, Adachi T
Knee 2023 Jan;40:111-121. Epub 2022 Nov 21 doi: 10.1016/j.knee.2022.10.003. PMID: 36423399
Pasapula C, Ali AMS, Kiliyanpilakkil B, Hardcastle A, Koundu M, Gharooni AA, Kabwama S, Cutts S
Foot (Edinb) 2021 Mar;46:101720. Epub 2020 Aug 25 doi: 10.1016/j.foot.2020.101720. PMID: 33531204
Park JG, Kim JM, Lee BS, Lee SM, Kwon OJ, Bin SI
Knee Surg Sports Traumatol Arthrosc 2020 Oct;28(10):3164-3172. Epub 2019 Nov 28 doi: 10.1007/s00167-019-05805-8. PMID: 31781797
Dallinga JM, Benjaminse A, Lemmink KA
Sports Med 2012 Sep 1;42(9):791-815. doi: 10.1007/BF03262295. PMID: 22909185

Clinical prediction guides

Mabrouk A, An JS, Glauco L, Jacque C, Kley K, Sharma A, Ollivier M
Knee Surg Sports Traumatol Arthrosc 2023 Dec;31(12):5673-5680. Epub 2023 Oct 26 doi: 10.1007/s00167-023-07616-4. PMID: 37884727
Saengsin J, Bhimani R, Sato G, C Hagemeijer N, Mirochnik K, Lubberts B, R Waryasz G, W DiGiovanni C, Guss D
J Orthop Res 2022 Oct;40(10):2421-2429. Epub 2022 Jan 5 doi: 10.1002/jor.25256. PMID: 34985144
Tsikopoulos K, Sidiropoulos K, Kitridis D, Cain Atc SM, Metaxiotis D, Ali A
Clin Orthop Relat Res 2020 Feb;478(2):359-377. doi: 10.1097/CORR.0000000000000946. PMID: 31625960Free PMC Article
Czaprowski D, Kotwicki T, Stoliński L
Ortop Traumatol Rehabil 2012 Sep-Oct;14(5):407-20. doi: 10.5604/15093492.1016368. PMID: 23208932
Dallinga JM, Benjaminse A, Lemmink KA
Sports Med 2012 Sep 1;42(9):791-815. doi: 10.1007/BF03262295. PMID: 22909185

Recent systematic reviews

Spennacchio P, Meyer C, Karlsson J, Seil R, Mouton C, Senorski EH
Knee Surg Sports Traumatol Arthrosc 2020 Jan;28(1):163-176. Epub 2019 Oct 23 doi: 10.1007/s00167-019-05755-1. PMID: 31646350
Tsikopoulos K, Sidiropoulos K, Kitridis D, Cain Atc SM, Metaxiotis D, Ali A
Clin Orthop Relat Res 2020 Feb;478(2):359-377. doi: 10.1097/CORR.0000000000000946. PMID: 31625960Free PMC Article
Dallinga JM, Benjaminse A, Lemmink KA
Sports Med 2012 Sep 1;42(9):791-815. doi: 10.1007/BF03262295. PMID: 22909185
Zech A, Hübscher M, Vogt L, Banzer W, Hänsel F, Pfeifer K
Med Sci Sports Exerc 2009 Oct;41(10):1831-41. doi: 10.1249/MSS.0b013e3181a3cf0d. PMID: 19727032
Kerkhoffs GM, Blankevoort L, van Poll D, Marti RK, van Dijk CN
Clin Biomech (Bristol, Avon) 2001 Oct;16(8):635-43. doi: 10.1016/s0268-0033(01)00054-7. PMID: 11535344

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