Kennedy-betegség egy progresszív beszédzavarban szenvedó férfiben.

Translated title of the contribution: Kennedy disease in a patient with progressive speech disorder

J. Kárteszi, E. Morava, M. Czakó, I. Gáti, J. Czopf, G. Kosztolányi, B. Melegh

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Kennedy disease is an adult onset neuromuscular disease characterized by slowly progressive proximal and bulbar muscle weakness. The disease associates with gynecomastia, adult onset infertility and sensory neuropathy, and caused by pathologic expansion of CAG repeats at the N-terminal region of the androgen-receptor gene at Xq11-q12. We report on a patient presenting with slowly progressive muscle weakness of the lower extremities, progressive dysartry and swallowing difficulties. The clinical symptoms were not fully specific for the disease. Moreover the family history was suggestive for an autosomal dominant trait meaning a diagnostic pitfall at the original examination. Finally the firm diagnosis of the Kennedy disease was established by a polimerase chain reaction based method.

Original languageHungarian
Pages (from-to)1915-1917
Number of pages3
JournalOrvosi hetilap
Volume142
Issue number35
Publication statusPublished - Sep 2 2001

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ASJC Scopus subject areas

  • Medicine(all)

Cite this

Kárteszi, J., Morava, E., Czakó, M., Gáti, I., Czopf, J., Kosztolányi, G., & Melegh, B. (2001). Kennedy-betegség egy progresszív beszédzavarban szenvedó férfiben. Orvosi hetilap, 142(35), 1915-1917.