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thomsen disease

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Case 50 - Skeletal Muscle Channelopathies: Non-Dystrophic Myotonia; Myotonia Congenita (Becker)
from Myopathies
Jessica E. Hoogendijk, University Medical Center Utrecht, Marianne de Visser, Amsterdam University Medical Center, Pieter A. van Doorn, Erasmus MC, University Medical Center, Rotterdam, Erik H. Niks, Leiden University Medical Center
Book:

Neuromuscular Disease

Print publication:

19 December 2024, pp 212-215
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Summary

A 35-year-old man complained about muscle stiffness and weakness, especially when initiating a movement. He had experienced these symptoms for as long as he could remember. They were present in his eyes, jaws, tongue, and limb muscles. He had noticed that cold weather had a negative influence. He was not able to run and did not participate in team sport activities. In spite of these symptoms, he experienced no limitations in activities of daily living. He was referred because he had been informed elsewhere about possible treatment. The family history revealed similar symptoms in a sister and a brother, but not in the parents. His father’s grandparents were cousins.