Myofibrillar myopathy: a rare but important differential diagnosis of camptocormia in a patient with Parkinson's Disease

Jan Niklas Petry-Schmelzer; Angela Abicht; Michael T Barbe; Gilbert Wunderlich

doi:10.1186/s42466-023-00250-y

Myofibrillar myopathy: a rare but important differential diagnosis of camptocormia in a patient with Parkinson's Disease

Neurol Res Pract. 2023 Jun 8;5(1):26. doi: 10.1186/s42466-023-00250-y.

Authors

Jan Niklas Petry-Schmelzer¹, Angela Abicht^{2

3}, Michael T Barbe⁴, Gilbert Wunderlich^{4

5}

Affiliations

¹ Department of Neurology, Faculty of Medicine and University Hospital, University of Cologne, Kerpener Straße 62, 50937, Cologne, Germany. jan.petry-schmelzer@uk-koeln.de.
² Medizinisch Genetisches Zentrum (MGZ) München, Munich, Germany.
³ Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Munich, Germany.
⁴ Department of Neurology, Faculty of Medicine and University Hospital, University of Cologne, Kerpener Straße 62, 50937, Cologne, Germany.
⁵ Center for Rare Diseases, Faculty of Medicine and University Hospital, University of Cologne, Cologne, Germany.

Abstract

Here we report on a patient with Parkinson's Disease and camptocormia due to Myofibrillar Myopathy Type 3. By leading the reader through the clinical reasoning process and highlighting the respective red flags we aim to increase the readers' awareness for the differential diagnosis of camptocormia.

Keywords: Axial myopathy; Tetraparesis.

Publication types

Letter

Grants and funding

FI 773/15-463/Deutsche Forschungsgemeinschaft