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: 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.


Sources

1. Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex‑linked recessive trait. Neurology 1968; 18(7): 671– 680.

2. LaSpada AR, Wilson EM, Lubahn DB, Harding AE, Fisch­beck KH. Androgen receptor gene mutations in X‑linked spinal and bulbar mucular atrophy. Nature 1991; 352(6330): 77– 79.

3. Mayer M, Kojecký Z, Urbánek K, Bartoušek J, Vlachová I. Kennedyho choroba –  méně obvyklá forma spinální svalové atrofie. Cesk Slov Neurol N 1995; 58/ 91(4): 180– 183.

4. Atsuta N, Watanabe H, Ito M, Banno H, Suzuki K, Katsuno M et al. Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. Brain 2006; 129(6): 1446– 1455.

5. Rhodes LE, Freeman BK, Auh S, Kokkinis AD, La Pean A,Chen Ch et al. Clinical features of spinal and bulbar muscular atrophy. Brain 2009; 132(12): 3242– 3251. doi: 10.1093/ brain/ awp258.

6. Fratta P, Nirmalananthan N, Masset L, Skorupinska I, Collins T, Cortese A et al. Correlation of clinical and molecular features in spinal bulbar muscular atrophy. Neurology 2014; 82(23): 2077– 2084. doi: 10.1212/ WNL.0000000000000507.

7. Guidetti D, Sabadini R, Ferlini A, Torrente I. Epidemiological survey of X‑linked bulbar and spinal muscular atrophy, or Kennedy disease, in the province of Reggio Emilia, Italy. Eur J Epidemiol 2001; 17(6): 587– 591.

8. Lee JH, Shin JH, Park KP, Kim IJ, Kim JG, Lim JG et al. Phenotypic variability in Kennedyś disease: implications of the early dia­gnostic features. Acta Neurol Scand 2005; 112(1): 57– 63.

9. Sorarú G, D’Ascenzo C, Polo A, Palmieri A, Baggio L, Vergnani L et al. Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. J Neurol Sci 2008; 264(1– 2): 100– 105.

10. Yamada M, Inaba A, Shiojiri T. X‑linked spinal and bulbar muscular atrophy with myasthenic symp­toms. J Neurol Sci 1997; 146(2): 183– 185.

11. Stevic Z, Peric S, Pavlovic S, Basta I, Lavrnic D. Myasthenic symp­toms in a patient with Kennedy’s dis­ease. Acta Neurol Belg 2014; 114(1): 71– 73.

12. Inoue K, Hemmi S, Miyashi M, Kutoku Y, Murakami T,Kuokawa K et al. Muscular fatigue and decremental response to repetitive nerve stimulation in X‑linked spinobulbar muscular atrophy. Eur J Neurol 2009; 16(1): 76– 80. doi: 10.1111/ j.1468‑ 1331.2008.02349.x.

13. Boz C, Kalay E, Sahin N, Velioglu S, Ozmenoglu M, Karaguzel A. Ocular myasthenia gravis associated with X-linked recessive spinal and bulbar muscular atrophy. J Clin Neuromuscul Dis 2004; 5(3): 115– 118.

14. Jokela M, Udd B, Päivärinta M. Double trouble: spinal muscular atrophy type II and seropositive myasthenia gravis in the same patient. Neuromusc Disord 2012; 22(2): 129– 130. doi: 10.1016/ j.nmd.2011.07.011.

15. Katsuno M, Tanaka F, Adachi H, Banno H, Suzuki K, Watanabe H et al. Pathogenesis and therapy of spinal and bulbar muscular atrophy (SBMA). Prog Neurobio­l 2012; 99(3): 246– 256. doi: 10.1016/ j.pneurobio­.2012.05.007.

Labels
Paediatric neurology Neurosurgery Neurology

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Czech and Slovak Neurology and Neurosurgery

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