Strength and muscle structure preserved during long-term therapy in a patient with hypokalemic periodic paralysis (Cav1.1-R1239G)

  • Marc-André WeberEmail author
  • Karin Jurkat-Rott
  • Holger Lerche
  • Frank Lehmann-Horn
Original Communication


We report a young wheelchair-dependent patient with an unclear proximal myopathy and a heterozygous, de-novo Cav1.1-R1239G mutation suggesting hypokalemic periodic paralysis (HypoPP). Sonography showed a loss of the pennate pattern indicative of an edema, whereas fatty degeneration was excluded. Within 7 days of therapy with spironolactone, potassium and physical therapy, muscle strength almost completely normalized, a normal pennate pattern appeared and the edema was markedly reduced. She learned to walk without aid and to do sports and has continued to do so for 11 years until now. Over the years, we tested serum potassium values, muscle strength, muscle edema and muscular sodium content by 1.5 T, 3 T and 7 T 1H and 23Na magnetic resonance imaging. No fatty muscle degeneration developed. Muscular edema-like changes only occurred when she was pregnant and was set to reduced therapy. Because of the ability to do sports again, her mobility was further increased. Our observational study on this single patient may suggest that: (1) muscle imaging and molecular genetics are important diagnostic tools, (2) weakness in periodic paralysis may be reversible, and (3) continued adequate therapy may preserve muscle structure and strength on a longterm, whereas weakness due to fatty degeneration could be considered progressive and irreversible. Although HypoPP is a rare disease, it should be included in differential diagnosis not only if there is paroxysmal weakness, but also in cases of myopathy of unknown origin.


Myopathy Paralysis Muscle edema Precision medicine Ion channel disorder 



We thank the patient for the perfect compliance. K. J. R. and M. A. W. were supported by the Eva Luise Köhler Research Award for Rare Diseases. F. L. H. was endowed Senior Research Professor of the non-profit Hertie-Foundation. K. J. R., H. L. and F. L. H. were supported by research grants from the German Federal Research Ministry (BMBF, IonNeurONet, 01GM1105A), and K. J. R., M. A. W. and F. L. H. by the German Society for Patients with Muscle Disorders (DGM).

Compliance with ethical standards

Conflicts of interest

The authors report no conflicts of interest.

Ethical approval

All human studies have been approved by the appropriate local ethics committee and have been performed in accordance with the ethical standards laid down in the Declaration of Helsinki. Informed consent was obtained prior to inclusion in the study.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Institute of Diagnostic and Interventional Radiology, Pediatric Radiology and NeuroradiologyUniversity Medical Center RostockRostockGermany
  2. 2.Department of NeurosurgeryUlm UniversityUlmGermany
  3. 3.Department of Neurology and Epileptology, Hertie Institut für Klinische HirnforschungUniversitätsklinikum TübingenTübingenGermany
  4. 4.Department of NeurophysiologyUlm UniversityUlmGermany

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