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July 2025

Treatment of Ochronotic Osteoarthropathy and the Evaluation of Selected Lower Limb Muscle Properties, Including the Patellar Tendon: A Case Report and Mini Literature Review

Authors: Jaromir Jarecki 1,Agnieszka Tomczyk-Warunek 1, Agnieszka Posturzynska 1, Edward Warda 1, Marcin Wasko 2, Kamil Arciszewski 3, Ewa Tomaszewska 4, Siemowit Muszynski 5, Jaroslaw Bienias 6, Monika Ostapiuk 6, Tomasz Skrzypek 7, Jacek Gagala 1

Affiliations:

  1. Department of Traumatology, Orthopedics and Rehabilitation, Medical University of Lublin, 20-954 Lublin, Poland
  2. Department of Radiology and Imaging, The Medical Centre for Postgraduate Education, 01-813 Warsaw, Poland
  3. Clinical Neurology Ward, The University Clinical Hospital No. 4 in Lublin, Jaczewskiego 8, 20-090 Lublin, Poland
  4. Department of Animal Physiology, University of Life Sciences in Lublin, 20-950 Lublin, Poland
  5. Department of Biophysics, University of Life Sciences in Lublin, 20-950 Lublin, Poland
  6. Department of Materials Engineering, Faculty of Mechanical Engineering, Lublin University of Technology, Nadbystrzycka 36, 20-618 Lublin, Poland
  7. Department of Biomedicine and Environmental Research, Faculty of Medicine, John Paul II Catholic University of Lublin, 20-708 Lublin, Poland

Journal: Journal of Clinical Medicine - June 2025, Volume 14, Issue 13, Article no. 4413 (DOI: 10.3390/jcm14134413)

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.

 

Keywords: alkaptonuria, homogentisic acid, MyotonPRO, rectus femoris, vastus medialis, patellar tendon, ochronotic osteoarthropathy, total knee arthroplasty

In conclusion, the case study presented highlights the importance of understanding the impact of alkaptonuria not only on the joints but also on the surrounding muscles. This is the first reported study to utilize the MyotonPRO device to assess muscle condition in a patient with this rare disorder. Our findings underscore the need for further research in this area. However, the rarity of the disease, combined with diagnostic limitations and late-stage identification, poses a significant challenge for larger-scale studies.

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