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A difficult case
Neurogenic disease with high CK: think muscle
  1. Andrea Barp1,
  2. Paola Tonin2,
  3. Salvatore Stano1,
  4. Gaetano Nicola Vattemi2,
  5. Marta Cheli2,
  6. Giulia Marchetto2,
  7. Matteo De Iorio3,
  8. Riccardo Zuccarino1
  1. 1 NeuroMuscular Omnicentre (NeMO) Trento, Provincia autonoma di Trento Azienda Provinciale per i Servizi Sanitari, Trento, Italy
  2. 2 Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy
  3. 3 Tecnomed Srl, Centri Diagnostici, Verona, Italy
  1. Correspondence to Dr Andrea Barp; andrea.barp{at}centrocliniconemo.it

Abstract

HyperCKaemia is common in several myopathies but can accompany other disorders, including neuropathies. However, distinguishing neurogenic from myopathic hyperCKaemia is not always straightforward. A 58-year-old man had experienced muscle cramps and fatiguability since aged 3 years, with persistently high serum creatine kinase (CK). A positive family history prompted genetic testing for Charcot-Marie-Tooth disease type 1A, which was positive. However, his serum CK remained persistently high and neurological examination 17 years later identified diffuse muscle atrophy and weakness. Genetic testing for dystrophinopathy identified a novel missense variant on the DMD gene. Patients whose serum CK is in ‘myopathic range’, even those with definite neurogenic disease, should be investigated for additional myopathy, since this may require additional monitoring for pulmonary and cardiac complications.

  • MUSCLE DISEASE
  • GENETICS
  • NEUROPATHY
  • DYSTROPHIN

Data availability statement

All data relevant to the study are included in the article or uploaded as supplementary information.

https://doi.org/10.1136/pn-2024-004401

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    Data availability statement

    All data relevant to the study are included in the article or uploaded as supplementary information.

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    Footnotes

    • Contributors AB conceived the paper, complied the case report and drafted the manuscript. PT, GNV and GM provided histopathology images, reviewed and edited the manuscript. MDI provided neuroradiology images, and edited the manuscript. MC and SS collected clinical data of the case, critically reviewed the manuscript. RZ contributed to study concept and critically reviewed the manuscript. AB is the guarantor.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally reviewed by Jon Walters, Swansea, UK.