Follow-up of a large population of asymptomatic/oligosymptomatic hyperckemic subjects

Elisabetta D'Adda, Monica Sciacco, Maria Elisa Fruguglietti, Veronica Crugnola, Valeria Lucchini, Filippo Martinelli-Boneschi, Chiara Zecca, Costanza Lamperti, Giacomo Pietro Comi, Nereo Bresolin, Maurizio Moggio, Alessandro Prelle

Research output: Contribution to journalArticle

Abstract

Six years befor the present study we performed a retrospective study of 114 subjects presenting with asymptomatic / oligosymptomatic hyperckemia (raised creatine kinase blood levels), a diagnosis being made in 21 of them. We now present the results of a long-term follow-up in 55 of the still undiagnosed 93 individuals. Most of them have remained asymptomatic and did not develop specific neuromuscular disorders. One subject became frankly symptomatic manifesting limb-girdle weakness. A diagnosis of dystrophinopathy carrier and one of possible type I SMA carrier were indirectly made in another two subjects. Almost all subjects still have hyperckemia, though the mean creatine kinase (CK) value is lower than before. CK levels have become normal in 12 subjects. Two died of neoplasia, and six developed non-neuromuscular disorders. We noted no follow-up differences in terms of CK modifications between subjects with pathological EMG and/or muscle biopsy findings and those with normal findings at first examination.

Original languageEnglish
Pages (from-to)1399-1403
Number of pages5
JournalJournal of Neurology
Volume253
Issue number11
DOIs
Publication statusPublished - Nov 2006

Keywords

  • Asymptomatic subjects
  • CK
  • Follow up
  • Hyperckemia

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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    D'Adda, E., Sciacco, M., Fruguglietti, M. E., Crugnola, V., Lucchini, V., Martinelli-Boneschi, F., Zecca, C., Lamperti, C., Comi, G. P., Bresolin, N., Moggio, M., & Prelle, A. (2006). Follow-up of a large population of asymptomatic/oligosymptomatic hyperckemic subjects. Journal of Neurology, 253(11), 1399-1403. https://doi.org/10.1007/s00415-006-0223-y