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Knee contracture

MedGen UID:
332406
Concept ID:
C1837263
Anatomical Abnormality
Synonyms: Contractures of knees; Contractures of the knees; Knee contractures
 
HPO: HP:0034671

Definition

Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the knee joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. [from HPO]

Conditions with this feature

Rhizomelic chondrodysplasia punctata type 2
MedGen UID:
341734
Concept ID:
C1857242
Disease or Syndrome
Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 (215100) is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012). For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see 215100.
Congenital myopathy 10b, mild variant
MedGen UID:
762102
Concept ID:
C3541476
Disease or Syndrome
Congenital myopathy-10B (CMYP10B) is an autosomal recessive skeletal muscle disorder characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation. Other common features include facial and neck muscle weakness, feeding difficulties, contractures, scoliosis, high-arched palate, hyporeflexia, and difficulties walking. The disorder is slowly progressive and most patients follow a chronic course. Muscle biopsy shows variable findings, including type 1 fiber predominance, minicore lesions, and myofibrillar disorganization (Boyden et al., 2012; Harris et al., 2018). Patients with missense mutations affecting conserved cysteine residues in the EGF-like domain show the mild variant phenotype (CMYP10B) with later onset of respiratory failure and minicores on muscle biopsy, whereas patients with more damaging mutations, including nonsense or frameshift null mutations, show the severe variant phenotype (CMYP10A) (Croci et al., 2022). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).
Mitochondrial complex IV deficiency, nuclear type 23
MedGen UID:
1840958
Concept ID:
C5830322
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 23 (MC4DN23) is an autosomal recessive disorder characterized by infantile-onset encephalopathy (Rius et al., 2022). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.
Congenital myopathy 2c, severe infantile, autosomal dominant
MedGen UID:
1840969
Concept ID:
C5830333
Disease or Syndrome
Congenital myopathy-2C (CMYP2C) is an autosomal dominant disorder of the skeletal muscle characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life. Patients present at birth with hypotonia, lack of antigravity movements, poor head control, and difficulties feeding or breathing, often requiring tube-feeding and mechanical ventilation. Decreased fetal movements may be observed in some cases. Of the patients with congenital myopathy caused by mutation in the ACTA1 gene, about 90% carry heterozygous mutations that are usually de novo and cause the severe infantile phenotype. Some patients with heterozygous mutations have a more typical and milder disease course with delayed motor development and proximal muscle weakness, but are able to achieve independent ambulation (CMYP2A; 161800). The severity of the disease most likely depends on the detrimental effect of the mutation, although there are probably additional modifying factors (Ryan et al., 2001; Laing et al., 2009; Sanoudou and Beggs, 2001; Agrawal et al., 2004; Nowak et al., 2013; Sewry et al., 2019; Laitila and Wallgren-Pettersson, 2021). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).
Congenital myopathy 22A, classic
MedGen UID:
1841089
Concept ID:
C5830453
Disease or Syndrome
Classic congenital myopathy-22A (CMYP22A) is an autosomal recessive muscle disorder characterized by onset of muscle weakness in utero or soon after birth. Early features may include fetal hypokinesia, breech presentation, and polyhydramnios. Affected individuals are born with severe hypotonia and require respiratory and feeding assistance. Those who survive the neonatal period show a 'classic' phenotype of congenital myopathy with delayed motor development, difficulty walking, proximal muscle weakness of the upper and lower limbs, facial and neck muscle weakness, easy fatigability, and mild limb contractures or foot deformities. Some have persistent respiratory insufficiency; dysmorphic facial features may be present (Zaharieva et al., 2016). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).

Professional guidelines

PubMed

Akdemir M, Biçen Ç, Özkan M
Acta Orthop Traumatol Turc 2022 Nov;56(6):366-371. doi: 10.5152/j.aott.2022.21397. PMID: 36567538Free PMC Article
Kunze KN, Polce EM, Sadauskas AJ, Levine BR
J Arthroplasty 2020 Nov;35(11):3117-3122. Epub 2020 Jun 1 doi: 10.1016/j.arth.2020.05.061. PMID: 32564970
Solignac N, Vialle R, Thévenin-Lemoine C, Damsin JP
Orthop Traumatol Surg Res 2009 May;95(3):196-201. Epub 2009 May 1 doi: 10.1016/j.otsr.2009.01.004. PMID: 19410531

Recent clinical studies

Etiology

Musielak B, Al-Saad SR, Jóźwiak M, Koch A, Shadi M
J Pediatr Orthop B 2023 May 1;32(3):260-267. Epub 2023 Jan 3 doi: 10.1097/BPB.0000000000001039. PMID: 36728534
Li Y, Liao Q, Zeng J, Zhang Z, Li B, Luo Z, Xiao X, Liu G
Clin Orthop Relat Res 2023 Apr 1;481(4):822-834. Epub 2023 Feb 1 doi: 10.1097/CORR.0000000000002559. PMID: 36724201Free PMC Article
Klenø AN, Stisen MB, Cubel CH, Mechlenburg I, Nordbye-Nielsen K
Physiother Theory Pract 2023 Jan;39(1):200-207. Epub 2021 Nov 22 doi: 10.1080/09593985.2021.2007558. PMID: 34809532
Wang L, Cui JB, Xie HM, Zuo XQ, He JL, Jia ZS, Zhang LN
Phys Ther 2022 May 5;102(5) doi: 10.1093/ptj/pzab300. PMID: 34972861
Cloodt E, Rosenblad A, Rodby-Bousquet E
Dev Med Child Neurol 2018 Apr;60(4):391-396. Epub 2018 Jan 10 doi: 10.1111/dmcn.13659. PMID: 29318610

Diagnosis

Cloodt E, Lindgren A, Lauge-Pedersen H, Rodby-Bousquet E
BMC Musculoskelet Disord 2022 Jul 2;23(1):629. doi: 10.1186/s12891-022-05548-7. PMID: 35780097Free PMC Article
Ozen S, Bölük Şenlikci H, Ümit Yemişci O
Jt Dis Relat Surg 2020;31(2):386-389. Epub 2020 Jun 18 doi: 10.5606/ehc.2020.72081. PMID: 32584742Free PMC Article
Kocaoğlu M, Bilen FE, Dikmen G, Balci HI, Eralp L
Acta Orthop Traumatol Turc 2014;48(2):157-63. doi: 10.3944/AOTT.2014.3274. PMID: 24747623
Atilla B, Caglar O, Pekmezci M, Buyukasik Y, Tokgozoglu AM, Alpaslan M
Haemophilia 2012 May;18(3):358-63. Epub 2011 Nov 21 doi: 10.1111/j.1365-2516.2011.02695.x. PMID: 22103453
Solignac N, Vialle R, Thévenin-Lemoine C, Damsin JP
Orthop Traumatol Surg Res 2009 May;95(3):196-201. Epub 2009 May 1 doi: 10.1016/j.otsr.2009.01.004. PMID: 19410531

Therapy

Li Y, Liao Q, Zeng J, Zhang Z, Li B, Luo Z, Xiao X, Liu G
Clin Orthop Relat Res 2023 Apr 1;481(4):822-834. Epub 2023 Feb 1 doi: 10.1097/CORR.0000000000002559. PMID: 36724201Free PMC Article
Wang L, Cui JB, Xie HM, Zuo XQ, He JL, Jia ZS, Zhang LN
Phys Ther 2022 May 5;102(5) doi: 10.1093/ptj/pzab300. PMID: 34972861
Roof MA, Anoushiravani AA, Chen KK, Moses MJ, Wolfson T, Poultsides L, Schwarzkopf R
J Knee Surg 2020 Aug;33(8):754-761. Epub 2019 Apr 8 doi: 10.1055/s-0039-1684011. PMID: 30959544
Kocaoğlu M, Bilen FE, Dikmen G, Balci HI, Eralp L
Acta Orthop Traumatol Turc 2014;48(2):157-63. doi: 10.3944/AOTT.2014.3274. PMID: 24747623
Morgan CL, Cullen GP, Stokes M, Swan AV
Clin Rehabil 2003 Dec;17(8):871-8. doi: 10.1191/0269215503cr691oa. PMID: 14682559

Prognosis

Wang KK, Novacheck TF, Rozumalski A, Georgiadis AG
J Pediatr Orthop 2019 May/Jun;39(5):e360-e365. doi: 10.1097/BPO.0000000000001312. PMID: 30531251
Kim SB, Ko CY, Son J, Kang S, Ryu J, Mun M
J Back Musculoskelet Rehabil 2017;30(2):371-381. doi: 10.3233/BMR-160736. PMID: 28282797
Atilla B, Caglar O, Pekmezci M, Buyukasik Y, Tokgozoglu AM, Alpaslan M
Haemophilia 2012 May;18(3):358-63. Epub 2011 Nov 21 doi: 10.1111/j.1365-2516.2011.02695.x. PMID: 22103453
Solignac N, Vialle R, Thévenin-Lemoine C, Damsin JP
Orthop Traumatol Surg Res 2009 May;95(3):196-201. Epub 2009 May 1 doi: 10.1016/j.otsr.2009.01.004. PMID: 19410531
Beals RK
Dev Med Child Neurol 2001 Dec;43(12):802-5. doi: 10.1017/s0012162201001451. PMID: 11769265

Clinical prediction guides

Musielak B, Al-Saad SR, Jóźwiak M, Koch A, Shadi M
J Pediatr Orthop B 2023 May 1;32(3):260-267. Epub 2023 Jan 3 doi: 10.1097/BPB.0000000000001039. PMID: 36728534
Wang L, Cui JB, Xie HM, Zuo XQ, He JL, Jia ZS, Zhang LN
Phys Ther 2022 May 5;102(5) doi: 10.1093/ptj/pzab300. PMID: 34972861
Long JT, Laron D, Garcia MC, McCarthy JJ
J Pediatr Orthop 2020 Oct;40(9):e873-e879. doi: 10.1097/BPO.0000000000001634. PMID: 32658158
Long JT, Cobb L, Garcia MC, McCarthy JJ
J Pediatr Orthop 2020 Jul;40(6):e510-e515. doi: 10.1097/BPO.0000000000001437. PMID: 32501924
Wang KK, Novacheck TF, Rozumalski A, Georgiadis AG
J Pediatr Orthop 2019 May/Jun;39(5):e360-e365. doi: 10.1097/BPO.0000000000001312. PMID: 30531251

Recent systematic reviews

Holmes C, Brock K, Morgan P
Disabil Rehabil 2019 May;41(9):1079-1088. Epub 2018 Jan 2 doi: 10.1080/09638288.2017.1422037. PMID: 29295638

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