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A 36-year-old man reported 9 months of stiff muscles, muscle aches and ‘cramps’. He described involuntary muscle movements, without weakness, posturing or tremor.
On examination, there were unusual, wave-like muscle contractions on stretching of the leg (video 1) and after percussing the leg muscles (video 2). There was no muscle atrophy or hypertrophy and no bradykinesia.
We diagnosed rippling muscle disease. This is a rare muscle syndrome usually caused by a mutation in caveolin-31 but also may be an autoimmune, paraneoplastic feature (eg in thymoma).2 CT scan of the chest (figure 1A) identified a mediastinal mass, subsequently confirmed on positron-emission tomography scanning (figure 1B) . The lesion was resected and pathologically proven to be a WHO type B1 (predominantly cortical) …
Footnotes
Contributors (1) Research project: A. Conception, B. Organisation, C. Execution; (2) Statistical analysis: A. Design, B. Execution, C. Review and critique; (3) Manuscript: A. Writing of the first draft, B. Review and critique. Author AH: 3A, 3B. Author WW: 3A, 3B. Author GC: 1A, 1B, 1C, 3A, 3B.
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 peer reviewed by Jon Walters, Swansea, UK.
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