Kennedy’s Disease in the Neuromuscular Centre in Bratislava

Česká verzia

Authors: F. Cibulčík ¹; I. Martinka ¹; A. Hergottová ¹; I. Urminská ¹; R. Petrovič ²; H. Zelinková ²; P. Špalek ¹
Authors place of work: Neurologická klinika LF SZU a Centrum pre neuromuskulárne ochorenia, UN Bratislava ¹; Ústav lekárskej biológie, genetiky a klinickej genetiky, LF UK a UN Bratislava ²
Published in the journal: Cesk Slov Neurol N 2015; 78/111(3): 335-339
Category: Short Communication
doi: https://doi.org/10.14735/amcsnn2015335

Summary

Background:
Kennedy´s spinal and bulbar muscular atrophy is a hereditary disease and the most common form of spinal muscular atrophy in adult age. This disease is caused by a CAG - repeat expansion in androgen receptor gene on the X-chromosome.

Aim:
A comparison of clinical and genetic characteristics of our patients with patients in three large studies available from Japan, USA and Great Britain.

Methodology:
Between 1990 and 2013, we observed 17 patients with genetically verified diagnosis of Kennedy´s disease. We ascertained detailed medical history, all patients had neurological, electrophysiological and laboratory examinations, including genetic testing using PCR methodology.

Results:
The majority of parameters were similar to data from foreign studies – the mean age at the time of data collection was 53.6 ± 9.7 years and 43.1 ± 8.1 years at the time of first symptoms, the mean time from onset of symptoms was 9.2 ± 7.7 years and the mean time from onset of symptoms to diagnosis was 5.2 ± 4.6 years. Initial disease symptoms occurred, similarly to the other studies, in proximal parts of the lower extremities (47% of patients), followed by bulbar region (17%) and the muscles of the upper limb (12%). Compared to other studies, fewer patients (35%) had a positive family history, while the average CAG repeat size was similar (44.4 ± 3.2). We have identified a very strong correlation between the number of CAG repeats and the maximum detected value of creatine kinase and a strong correlation between the duration of the disease and maximal detected value of creatine kinase.

Key words:
Kennedy´s disease – spinal muscular atrophy – myastenia gravis

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.

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