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Benign prognosis in idiopathic hyper-CK-emia

✍ Scribed by Jaap C. Reijneveld; Nicolette C. Notermans; Wim H.J.P. Linssen; John H.J. Wokke

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
110 KB
Volume
23
Category
Article
ISSN
0148-639X

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✦ Synopsis

We report on the long-term follow-up in 31 patients with idiopathic hyper-CK-emia. At referral, all patients underwent a neurological interview and examination. Ancillary investigations included an open muscle biopsy and electromyography (EMG) in almost all, and other ancillary tests in some patients. After a follow-up period of 7.2 (mean; range 4-18) years, 74% of the patients had a final evaluation. The most common complaints at referral were fatigue and myalgia. EMG and muscle biopsy demonstrated minor, non-diagnostic abnormalities in 30 and 71% of patients, respectively. At follow-up, the pattern and the number of complaints had not changed substantially. One patient developed a sensory polyneuropathy. Neurological abnormalities were absent in all other patients. In conclusion, long-term follow-up of patients with idiopathic hyper-CK-emia does not reveal clinical deterioration. It seems justifiable to refrain from routine long-term follow-up in these patients.

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CAV3 gene mutation analysis in patients
CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia
✍ Jaap C. Reijneveld; Ieke B. Ginjaar; Wendy S. Frankhuizen; Nicolette C. Noterman 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 64 KB

## Abstract As caveolin‐3 deficiencies may explain persistent hyper‐CK‐emia, we performed __CAV3__ gene mutation analysis and immunohistochemistry for caveolin‐3 in 31 patients with idiopathic hyper‐CK‐emia. In 2 of 29 patients who donated blood, variants in the __CAV3__ gene were detected. Althoug