{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:25:03Z","timestamp":1760059503399,"version":"build-2065373602"},"reference-count":38,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2025,6,20]],"date-time":"2025-06-20T00:00:00Z","timestamp":1750377600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background\/Objectives: Alkaptonuria (AKU) is a rare genetic disorder characterized by elevated levels of circulating homogentisic acid (HGA), which accumulates in connective tissues. The musculoskeletal system is particularly susceptible to HGA deposition, often resulting in severe ochronotic osteoarthropathy, especially in the hips, shoulders, knees, and spine. However, little is known about the effects of AKU on skeletal muscle tissue. The study aimed to evaluate changes in lower limb muscles associated with AKU. Methods: This case report describes the treatment of ochronotic osteoarthropathy in the knee of a 73-year-old male patient. Muscle properties were assessed using the MyotonPRO device. The rectus femoris, vastus medialis, and patellar tendon were examined both preoperatively and three months postoperatively. Results: Following total knee arthroplasty (TKA) of the right knee, the patient demonstrated significant improvement in functional outcomes. The MyotonPRO assessment revealed measurable differences in muscle properties between the operated and non-operated limbs. Postoperative measurements indicated improvements in muscle tone, elasticity, and viscoelastic parameters in the treated limb. Conclusions: This case report supports the effectiveness of TKA as a treatment for ochronotic osteoarthropathy. Furthermore, it is the first study to use the MyotonPRO to assess muscle and tendon properties in a patient with AKU. These findings highlight the need for further research into the muscular effects of this rare metabolic disorder.<\/jats:p>","DOI":"10.3390\/jcm14134413","type":"journal-article","created":{"date-parts":[[2025,6,20]],"date-time":"2025-06-20T11:23:24Z","timestamp":1750418604000},"page":"4413","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Treatment of Ochronotic Osteoarthropathy and the Evaluation of Selected Lower Limb Muscle Properties, Including the Patellar Tendon: A Case Report and Mini Literature Review"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6866-3850","authenticated-orcid":false,"given":"Jaromir","family":"Jarecki","sequence":"first","affiliation":[{"name":"Department of Traumatology, Orthopedics and Rehabilitation, Medical University of Lublin, 20-954 Lublin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5007-7327","authenticated-orcid":false,"given":"Agnieszka","family":"Tomczyk-Warunek","sequence":"additional","affiliation":[{"name":"Department of Traumatology, Orthopedics and Rehabilitation, Medical University of Lublin, 20-954 Lublin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2726-5231","authenticated-orcid":false,"given":"Agnieszka","family":"Posturzy\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Traumatology, Orthopedics and Rehabilitation, Medical University of Lublin, 20-954 Lublin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edward","family":"Warda","sequence":"additional","affiliation":[{"name":"Department of Traumatology, Orthopedics and Rehabilitation, Medical University of Lublin, 20-954 Lublin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcin","family":"Wa\u015bko","sequence":"additional","affiliation":[{"name":"Department of Radiology and Imaging, The Medical Centre for Postgraduate Education, 01-813 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7200-3580","authenticated-orcid":false,"given":"Kamil","family":"Arciszewski","sequence":"additional","affiliation":[{"name":"Clinical Neurology Ward, The University Clinical Hospital No. 4 in Lublin, Jaczewskiego 8, 20-090 Lublin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7574-2653","authenticated-orcid":false,"given":"Ewa","family":"Tomaszewska","sequence":"additional","affiliation":[{"name":"Department of Animal Physiology, University of Life Sciences in Lublin, 20-950 Lublin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4118-6302","authenticated-orcid":false,"given":"Siemowit","family":"Muszy\u0144ski","sequence":"additional","affiliation":[{"name":"Department of Biophysics, University of Life Sciences in Lublin, 20-950 Lublin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaros\u0142aw","family":"Bienia\u015b","sequence":"additional","affiliation":[{"name":"Department of Materials Engineering, Faculty of Mechanical Engineering, Lublin University of Technology, Nadbystrzycka 36, 20-618 Lublin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8209-4770","authenticated-orcid":false,"given":"Monika","family":"Ostapiuk","sequence":"additional","affiliation":[{"name":"Department of Materials Engineering, Faculty of Mechanical Engineering, Lublin University of Technology, Nadbystrzycka 36, 20-618 Lublin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1836-3734","authenticated-orcid":false,"given":"Tomasz","family":"Skrzypek","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Environmental Research, Faculty of Medicine, John Paul II Catholic University of Lublin, 20-708 Lublin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacek","family":"G\u0105ga\u0142a","sequence":"additional","affiliation":[{"name":"Department of Traumatology, Orthopedics and Rehabilitation, Medical University of Lublin, 20-954 Lublin, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,6,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1038\/ng0996-19","article-title":"The Molecular Basis of Alkaptonuria","volume":"14","author":"Granadino","year":"1996","journal-title":"Nat. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"323","DOI":"10.5806\/AST.2015.28.5.323","article-title":"Determination of Homogentisic Acid in Human Plasma by GC-MS for Diagnosis of Alkaptonuria","volume":"28","author":"Maheshwor","year":"2015","journal-title":"Anal. Sci. Technol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1016\/S0002-9297(07)62964-4","article-title":"High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots","volume":"67","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"79","DOI":"10.2478\/rir-2021-0011","article-title":"Development of an Effective Therapy for Alkaptonuria\u2014Lessons for Osteoarthritis","volume":"2","author":"Gallagher","year":"2021","journal-title":"Rheumatol. Immunol. Res."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1053\/S0049-0172(03)00080-5","article-title":"Alkaptonuria, Ochronosis, and Ochronotic Arthropathy","volume":"33","author":"Mannoni","year":"2004","journal-title":"Semin. Arthritis Rheum."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"536.e1","DOI":"10.1016\/j.amjmed.2016.01.010","article-title":"Orthopedic Manifestations of Ochronosis: Pathophysiology, Presentation, Diagnosis, and Management","volume":"129","author":"Gil","year":"2016","journal-title":"Am. J. Med."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1002\/jimd.12152","article-title":"Ochronotic Pigmentation Is Caused by Homogentisic Acid and Is the Key Event in Alkaptonuria Leading to the Destructive Consequences of the Disease-A Review","volume":"42","author":"Ranganath","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"98","DOI":"10.5152\/eurjrheum.2018.18116","article-title":"Musculoskeletal Manifestations of Alkaptonuria: A Case Report and Literature Review","volume":"6","author":"Wu","year":"2019","journal-title":"Eur. J. Rheumatol."},{"key":"ref_9","doi-asserted-by":"crossref","unstructured":"Milella, M.S., Geminiani, M., Trezza, A., Visibelli, A., Braconi, D., and Santucci, A. (2024). Alkaptonuria: From Molecular Insights to a Dedicated Digital Platform. Cells, 13.","DOI":"10.3390\/cells13121072"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"37","DOI":"10.2147\/TACG.S186773","article-title":"Alkaptonuria: Current Perspectives","volume":"13","author":"Zatkova","year":"2020","journal-title":"Appl. Clin. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1389","DOI":"10.1007\/s10067-014-2557-7","article-title":"Ochronotic Arthropathy as a Paradigm of Metabolically Induced Degenerative Joint Disease. A Case-Based Review","volume":"35","author":"Pineda","year":"2016","journal-title":"Clin. Rheumatol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"3887","DOI":"10.1002\/art.30606","article-title":"The Role of Calcified Cartilage and Subchondral Bone in the Initiation and Progression of Ochronotic Arthropathy in Alkaptonuria","volume":"63","author":"Taylor","year":"2011","journal-title":"Arthritis Rheum."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1007\/s10067-006-0390-3","article-title":"Bisphosphonate Treatment in Ochronotic Osteoporotic Patients","volume":"26","author":"Aliberti","year":"2007","journal-title":"Clin. Rheumatol."},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Zatkova, A., Olsson, B., Ranganath, L.R., and Imrich, R. (2022). Analysis of the Phenotype Differences in Siblings with Alkaptonuria. Metabolites, 12.","DOI":"10.3390\/metabo12100990"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1016\/j.cger.2010.03.006","article-title":"Strength Training in Older Adults: The Benefits for Osteoarthritis","volume":"26","author":"Latham","year":"2010","journal-title":"Clin. Geriatr. Med."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1007\/s11926-019-0839-4","article-title":"Skeletal Muscle Wasting and Its Relationship With Osteoarthritis: A Mini-Review of Mechanisms and Current Interventions","volume":"21","author":"Shorter","year":"2019","journal-title":"Curr. Rheumatol. Rep."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1177\/1941738112445726","article-title":"Muscle Impairments in Patients with Knee Osteoarthritis","volume":"4","author":"Alnahdi","year":"2012","journal-title":"Sports Health"},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Lettner, J., Kr\u00f3likowska, A., Ramadanov, N., Oleksy, \u0141., Hakam, H.T., Becker, R., and Prill, R. (2024). Evaluating the Reliability of MyotonPro in Assessing Muscle Properties: A Systematic Review of Diagnostic Test Accuracy. Medicina, 60.","DOI":"10.3390\/medicina60060851"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"3809","DOI":"10.1113\/JP280867","article-title":"Biochemical and Structural Basis of the Passive Mechanical Properties of Whole Skeletal Muscle","volume":"599","author":"Lieber","year":"2021","journal-title":"J. Physiol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"e924811","DOI":"10.12659\/MSM.924811","article-title":"Reliability of Myotonometric Measurement of Stiffness in Patients with Spinal Cord Injury","volume":"26","author":"Ge","year":"2020","journal-title":"Med. Sci. Monit."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Chen, G., Wu, J., Chen, G., Lu, Y., Ren, W., Xu, W., Xu, X., Wu, Z., Guan, Y., and Zheng, Y. (2019). Reliability of a Portable Device for Quantifying Tone and Stiffness of Quadriceps Femoris and Patellar Tendon at Different Knee Flexion Angles. PLoS ONE, 14.","DOI":"10.1371\/journal.pone.0220521"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/j.jelekin.2017.09.007","article-title":"Assessing the Viscoelastic Properties of Upper Trapezius Muscle: Intra- and Inter-Tester Reliability and the Effect of Shoulder Elevation","volume":"43","author":"Liu","year":"2018","journal-title":"J. Electromyogr. Kinesiol."},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Chang, T.-T., Zhu, Y.-C., Li, Z., Li, F., Li, Y.-P., Guo, J.-Y., Wang, X.-Q., and Zhang, Z.-J. (2021). Modulation in the Stiffness of Specific Muscles of the Quadriceps in Patients With Knee Osteoarthritis and Their Relationship With Functional Ability. Front. Bioeng. Biotechnol., 9.","DOI":"10.3389\/fbioe.2021.781672"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"e000446","DOI":"10.1136\/bmjsem-2018-000446","article-title":"Objective Assessment of Stiffness in Achilles Tendinopathy: A Novel Approach Using the MyotonPRO","volume":"4","author":"Morgan","year":"2018","journal-title":"BMJ Open Sport. Exerc. Med."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"S162","DOI":"10.1016\/j.joca.2020.02.265","article-title":"Limiting Factors of Knee Flexion Angle and Inferior Patellar Mobility in Patients with Knee Osteoarthritis","volume":"28","author":"Ohko","year":"2020","journal-title":"Osteoarthr. Cartil."},{"key":"ref_26","doi-asserted-by":"crossref","unstructured":"Shen, X., Wang, S., Chen, J., Li, J., Li, C., Xiang, R., Zhao, C., and Xu, X. (2024). Inter-Rater Reliability and Test-Retest Reliability of the Foot Posture Index (FPI-6) for Assessing Static Foot Posture in Elderly Female Patients with Knee Osteoarthritis and Its Association with Quadriceps Muscle Tone and Stiffness. Front. Bioeng. Biotechnol., 12.","DOI":"10.3389\/fbioe.2024.1385986"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.2147\/CIA.S442610","article-title":"The Differences in Parameters in Ultrasound Imaging and Biomechanical Properties of the Quadriceps Femoris with Unilateral Knee Osteoarthritis in the Elderly: A Preliminary Observational Study","volume":"19","author":"Li","year":"2024","journal-title":"Clin. Interv. Aging"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.jpain.2023.02.147","article-title":"The Relationship Between Muscle Mechanical Properties And Mechanical Pain Sensitivity In Older Adults With Knee Osteoarthritis","volume":"24","author":"Murillo","year":"2023","journal-title":"J. Pain"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"e2021096118","DOI":"10.1073\/pnas.2021096118","article-title":"Adipose Tissue Is a Critical Regulator of Osteoarthritis","volume":"118","author":"Collins","year":"2021","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_30","unstructured":"(2025, April 09). Effect of Gender, Muscle Type and Skinfold Thickness on Myometric Parameters in Young People\u2014PMC, Available online: https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC8590390\/."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1016\/j.ijscr.2014.06.007","article-title":"Ochronosis Diagnosed after Knee Arthroscopy","volume":"5","author":"Kara","year":"2014","journal-title":"Int. J. Surg. Case Rep."},{"key":"ref_32","doi-asserted-by":"crossref","unstructured":"Liu, Y., Li, C., Zhang, Z., Lu, X., and Zhang, H. (2023). Ochronotic Arthropathy Effectively Treated with Total Hip and Total Knee Arthroplasty: A Case Report. Front. Med., 10.","DOI":"10.3389\/fmed.2023.1212580"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1007\/s00167-005-0657-2","article-title":"Arthroscopic Treatment of Shoulder Ochronotic Arthropathy: A Case Report and Review of Literature","volume":"14","author":"Castagna","year":"2006","journal-title":"Knee Surg. Sports Traumatol. Arthrosc."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1016\/j.prp.2015.03.001","article-title":"Black Joint and Synovia: Histopathological Evaluation of Degenerative Joint Disease Due to Ochronosis","volume":"211","author":"Doganavsargil","year":"2015","journal-title":"Pathol.-Res. Pract."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"368","DOI":"10.5144\/0256-4947.2013.368","article-title":"Black Hip: A Rare Case Treated by Total Hip Replacement","volume":"33","author":"Gowda","year":"2013","journal-title":"Ann. Saudi Med."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1016\/j.ijscr.2014.06.015","article-title":"A Rare Cause of Arthropathy: An Ochronotic Patient with Black Joints","volume":"5","author":"Harun","year":"2014","journal-title":"Int. J. Surg. Case Rep."},{"key":"ref_37","doi-asserted-by":"crossref","unstructured":"Chen, Z., Ye, X., Shen, Z., Wang, Y., Wu, Z., Chen, G., Guan, Y., Wu, J., Jiang, T., and Wu, H. (2021). Comparison of the Asymmetries in Foot Posture and Properties of Gastrocnemius Muscle and Achilles Tendon Between Patients With Unilateral and Bilateral Knee Osteoarthritis. Front. Bioeng. Biotechnol., 9.","DOI":"10.3389\/fbioe.2021.636571"},{"key":"ref_38","first-page":"390","article-title":"Muscle-specific changes of lower extremities in the early period after total knee arthroplasty: Insight from tensiomyography","volume":"20","author":"Paravlic","year":"2020","journal-title":"J. Musculoskelet. Neuronal Interact."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/14\/13\/4413\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T17:55:58Z","timestamp":1760032558000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/14\/13\/4413"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,20]]},"references-count":38,"journal-issue":{"issue":"13","published-online":{"date-parts":[[2025,7]]}},"alternative-id":["jcm14134413"],"URL":"https:\/\/doi.org\/10.3390\/jcm14134413","relation":{},"ISSN":["2077-0383"],"issn-type":[{"type":"electronic","value":"2077-0383"}],"subject":[],"published":{"date-parts":[[2025,6,20]]}}}