Skip to main content

Camptocormia due to myotinilopathy, Parkinson’s disease, or both?

Camptocormia and axial myopathy

A Comment to this article was published on 27 September 2023

The Original Article was published on 08 June 2023

Letter to the Editor.

We read with interest the article by Petry-Schmelzer et al. which is about a 78 year-old female with the double trouble, myofibrillar myopathy and Parkinson’s disease [1]. The first clinical manifestations at the age of 72 were camptocormia and leg weakness and were classified as onset of Parkinson’s disease [1]. A myofibrillar myopathy was diagnosed at the age of 78 at the earliest and attributed to the variant c.179 C > T in MYOT [1]. Unilateral resting tremor of the right hand has been interpreted as the second clinical manifestation of Parkinson’s disease [1]. Parkinson’s disease responded poorly to L-DOPA [1]. It was concluded that Parkinson’s disease is a rare differential diagnosis of camptocormia in patients with myofibrillar myopathy [1]. The study is impressive, but it has limitations that should be discussed.

We disagree with the interpretation of camptocormia as the first manifestation of Parkinson’s disease [1]. Myofibrillar myopathy, including myotilinopathy, can present as axial myopathy [2], and axial myopathy has been reported to present initially as camptocormia [3]. A strong argument for camptocormia being the first manifestation of myofibrillar myopathy but not Parkinson’s disease is that the patient developed leg weakness concomitant with camptocormia. Although the patient underwent lumbar spine surgery for vertebrostenosis at the age of 73, leg weakness did not improve. The first manifestation of Parkinson’s disease in the index patient was resting tremor. A strong argument for tremor as the initial manifestation of Parkinson’s disease is that tremor is a common manifestation and camptocormia a rare symptom of Parkinson disease. If a tear of the right supraspinatus muscle tendon occurred prior to the onset of camptocormia, this could also have been the first manifestation of myofibrillar myopathy. Since the patient presented at the age of 78 with a positive Trendelenburg sign [1], it can be assumed that a waddling gait was present, indicating proximal weakness. Was there evidence that this type of gait disturbance was already present at the age of 72?

We also disagree with the statement in the introduction that camptocormia occurs with a prevalence of 3–18% in patients with Parkinson’s disease [1]. In the Asian population, postural disorders, including camptocormia, have been reported in up to 27% of patients [4].

A limitation of the study is that it does not report at what point upper-limb weakness developed. The clinical neurologic examination at the age of 78 revealed quadriparesis, but there is no evidence of the onset or clinical manifestation of upper extremity weakness.

Myotilinopathy can also manifest as skeletal muscle pseudohypertrophy. Was there evidence of excessive muscle fat replacement in the index patient?

Myotilinopathy can manifest as a multisystem disease affecting various organs, including the heart [5]. We should know whether the index patient has been prospectively evaluated for cardiac involvement, which may manifest as dilated or hypertrophic cardiomyopathy [6] or arrhythmias [7], both of which may be associated with heart failure [8].

What is the explanation for the normal creatine-kinase in the index patient? Was it due to progressive conversion of muscle tissue into fat? Was the patient’s motor activity restricted due to quadriparesis or hypokinesia due to Parkinson’s disease?

In summary, the interesting study has limitations that call the results and their interpretation into question. Addressing these issues would strengthen the conclusions and could improve the status of the study. Before interpreting clinical presentations, a careful individual and family history must be taken and the patient must be carefully examined neurologically.

Availability of supporting data

All supporting data are available from te corresponding author.

References

  1. Petry-Schmelzer, J. N., Abicht, A., Barbe, M. T., & Wunderlich, G. (2023). Myofibrillar myopathy: A rare but important differential diagnosis of camptocormia in a patient with Parkinson’s Disease. Neurol Res Pract, 5(1), 26. https://doi.org/10.1186/s42466-023-00250-y.

    Article  PubMed  PubMed Central  Google Scholar 

  2. Melberg, A., Oldfors, A., Blomström-Lundqvist, C., Stålberg, E., Carlsson, B., Larrson, E., Lidell, C., Eeg-Olofsson, K. E., Wikström, G., Henriksson, G., & Dahl, N. (1999). Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. Annals Of Neurology, 46(5), 684–692. https://doi.org/10.1002/1531-8249(199911)46:5<684::aid-ana2>3.0.co;2-#.

    Article  CAS  PubMed  Google Scholar 

  3. Renard, D., Castelnovo, G., Fernandez, C., De Paula, A. M., Penttilä, S., Suominen, T., & Udd, B. (2012). Camptocormia as presenting sign in myofibrillar myopathy. Neuromuscular Disorders, 22(11), 987–989. https://doi.org/10.1016/j.nmd.2012.06.004.

    Article  PubMed  Google Scholar 

  4. Pongmala, C., Artusi, C. A., Zibetti, M., Pitakpatapee, Y., Wangthumrong, T., Sangpeamsook, T., Srikajon, J., Srivanitchapoom, P., Youn, J., Cho, J. W., Kim, M., Zamil Shinawi, H. M., Obaid, M. T., Baumann, A., Margraf, N. G., Pona-Ferreira, F., Leitão, M., Lobo, T., Ferreira, J. J., Fabbri, M., & Lopiano, L. (2022). Postural abnormalities in asian and caucasian Parkinson’s disease patients: A multicenter study. Parkinsonism & Related Disorders, 97, 91–98. https://doi.org/10.1016/j.parkreldis.2022.03.006.

    Article  CAS  Google Scholar 

  5. Finsterer, J., Stöllberger, C., Hasun, M., Riedhammer, K., & Wagner, M. (2020). Multisystem myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT variant c.179 C > T. Case Rep Cardiol, 2020, 5128069. https://doi.org/10.1155/2020/5128069.

    Article  PubMed  PubMed Central  Google Scholar 

  6. Onore, M. E., Savarese, M., Picillo, E., Passamano, L., Nigro, V., Politano, L., & Bi-Allelic, D. E. S. (2022). Gene variants causing autosomal recessive myofibrillar myopathies affecting both skeletal muscles and cardiac function. International Journal Of Molecular Sciences, 23(24), 15906. https://doi.org/10.3390/ijms232415906.

    Article  PubMed  PubMed Central  Google Scholar 

  7. Avila-Smirnow, D., Gueneau, L., Batonnet-Pichon, S., Delort, F., Bécane, H. M., Claeys, K., Beuvin, M., Goudeau, B., Jais, J. P., Nelson, I., Richard, P., Ben Yaou, R., Romero, N. B., Wahbi, K., Mathis, S., Voit, T., Furst, D., van der Ven, P., Gil, R., Vicart, P., Fardeau, M., Bonne, G., & Behin, A. (2016). Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC. Rev Neurol (Paris), 172(10), 594–606. https://doi.org/10.1016/j.neurol.2016.07.017.

    Article  CAS  PubMed  Google Scholar 

  8. Matsumura, T., Inoue, K., Toyooka, K., Inoue, M., Iida, A., Saito, Y., Nishikawa, T., Moriuchi, K., Beck, G., Nishino, I., & Fujimura, H. (2021). Clinical trajectory of a patient with filaminopathy who developed arrhythmogenic cardiomyopathy, myofibrillar myopathy, and multiorgan tumors. Neuromuscular Disorders, 31(12), 1282–1286. https://doi.org/10.1016/j.nmd.2021.10.002.

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

None.

Funding

None receive.

Author information

Authors and Affiliations

Authors

Contributions

JF was responsible forall issues.

Corresponding author

Correspondence to Josef Finsterer.

Ethics declarations

Ethical approval and Consent to participate

Not applicable.

Consent for publication

Not applicable.

Competing interests

none.

Additional information

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Finsterer, J. Camptocormia due to myotinilopathy, Parkinson’s disease, or both?. Neurol. Res. Pract. 5, 45 (2023). https://doi.org/10.1186/s42466-023-00276-2

Download citation

  • Received:

  • Accepted:

  • Published:

  • DOI: https://doi.org/10.1186/s42466-023-00276-2

Keywords