Camptocormia as the presenting symptom in sporadic late onset nemaline myopathy: a case report

BMC Musculoskeletal Disorders

Matthias Türk¹  Martin Winterholler²  Ursula Schlötzer-Schrehardt³  Christian T. Thiel⁴  Rolf Schröder⁵  Armin M. Nagel⁶  Frank Roemer⁶ 

[1] Department of Neurology, Friedrich-Alexander University Erlangen-Nürnberg (FAU);Department of Neurology, Sana-Krankenhaus Rummelsberg;Department of Ophthalmology, Friedrich-Alexander University Erlangen-Nürnberg (FAU);Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nürnberg (FAU);Institute of Neuropathology, Friedrich-Alexander University Erlangen-Nürnberg (FAU);Institute of Radiology, Friedrich-Alexander University Erlangen-Nürnberg (FAU);

关键词: Camptocormia;    Axial myopathy;    Muscle biopsy;    Nemaline rods;    Sporadic late onset nemaline myopathy;    SLONM;   

DOI  :  10.1186/s12891-019-2942-0

来源: DOAJ

【 摘 要 】

Abstract Background Camptocormia has been reported in a plethora of diseases comprising disorders of the central nervous system, the peripheral nervous system, and the neuromuscular junction as well as hereditary and acquired myopathies. In sporadic late onset nemaline myopathy concomitant axial myopathy is common, but reports about camptocormia as the only presenting symptom in this condition are very rare. Notably, sporadic late onset nemaline myopathy is a potentially treatable condition in particular when associated with monoclonal gammopathy of unknown significance, HIV or rheumatological disorders. Case presentation We report the case of a 62-year-old female patient, who presented with slowly progressive camptocormia. Comprehensive work-up including neurological work-up, laboratory tests, MR-imaging, muscle biopsy and genetic testing led to the diagnosis of sporadic late onset nemaline myopathy. Conclusions Our case report highlights that sporadic late onset nemaline myopathy has to be considered in patients presenting with isolated camptocormia and comprehensive work-up of camptocormia is mandatory to ascertain the individual diagnosis, especially in consideration of treatable conditions.

【 授权许可】

Unknown