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A man with hypertrophic thighs
  1. Marijke Huskens1,
  2. Gert Cypers2,
  3. Thomas Tousseyn3
  1. 1 Department of Neurology, UZ Leuven, Leuven, Belgium
  2. 2 Department of Neurology, OLV Aalst, Aalst, Belgium
  3. 3 Department of Pathology, UZ Leuven, Leuven, Belgium
  1. Correspondence to Dr. Marijke Huskens, Department of Neurology, UZ Leuven, Leuven, Belgium; marijkehuskens{at}gmail.com

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A 39-year-old man of Tunisian origin was admitted to hospital with abdominal pain and postprandial vomiting. A neurologist’s opinion was requested because of his pelvic and shoulder pain and a markedly elevated serum creatine kinase of 2321 U/L (<140 U/L). He had a history of asthma, recurrent epistaxis and hepatitis A. There were no details about his childhood or about his parents. His sister was well and he had no children.

On examination, he had normal eye movements and normal facial and neck strength. There was striking hypertrophy of the thigh muscles (figure 1), without atrophy, myotonia, rippling or muscle mounding. His limb strength, coordination and sensation appeared normal, but he had difficulty climbing two steps at a time.

Figure 1

(A) …

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