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Kennedy’s Disease in the Neuromuscular Centre in Bratislava


Authors: F. Cibulčík 1;  I. Martinka 1;  A. Hergottová 1;  I. Urminská 1;  R. Petrovič 2;  H. Zelinková 2;  P. Špalek 1
Authors‘ workplace: 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: Cesk Slov Neurol N 2015; 78/111(3): 335-339
Category: Short Communication
doi: https://doi.org/10.14735/amcsnn2015335

Overview

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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Labels
Paediatric neurology Neurosurgery Neurology

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Czech and Slovak Neurology and Neurosurgery

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2015 Issue 3

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