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@article{706334,
author = {Voháňka, Stanislav and Bednařík, Josef and Fajkusová, Lenka and Sedláčková, J.},
article_location = {Oxford},
article_number = {Suppl. 2},
keywords = {Myotonic dystrophy type 2; epidemiology; Czech population},
language = {eng},
issn = {1351-5101},
journal = {European Journal of Neurology},
title = {Myotonic dystrophy type 2},
volume = {13},
year = {2006}
}
TY - JOUR
ID - 706334
AU - Voháňka, Stanislav - Bednařík, Josef - Fajkusová, Lenka - Sedláčková, J.
PY - 2006
TI - Myotonic dystrophy type 2
JF - European Journal of Neurology
VL - 13
IS - Suppl. 2
SP - 152
EP - 152
PB - Blackwell Science
SN - 13515101
KW - Myotonic dystrophy type 2
KW - epidemiology
KW - Czech population
N2 - BACKGROUND AND AIMS: Myotonic dystrophy type 2 (MD2) is a dominantly inherited disorder with multisystemic clinical features. The disease is caused by a CCTG repeat expansion in intron 1 of the zinc finger protein 9 (ZNF9) gene. If compared with myotonic dystrophy type 1 (MD1), it is a variant occurring mainly in Europe and considered of lesser frequency. Both types share a number of common clinical features, but also some dissimilarity in the clinical manifestation. MD2 was not described in Czech population to this time. METHODS: A PCR analysis and repeat-primed PCR were carried out in a population of patient with clinical and/or electrophysiological signs of myotonic myopathy in whom no mutation corresponding with MD1 was found. RESULTS: During 2004-2005 thirty patients with positive mutations in ZNF9 were discovered: 7 cases were sporadic, 23 patients revealed familial occurrence. One patient was homozygote for the mutation. The mean age of onset was 36 years (range: 15-57). Twenty-nine cases displayed proximal weakness of lower extremities, one patient showed the shoulder girdle weakness. Cataracts developed in 12 cases, scoliosis in 3 patients, signs and symptoms of a brain involvement were found in 6 subjects (cognitive impairment, cerebellar tremor and dysarthria, central paraparesis of lower limbs). The involvement of the heart conduction system was found 4 times. Muscular pain was reported by 13 subjects. Five cases suffer from hyperhidrosis. CONCLUSION: Myotonic dystrophy type 2 is a common inherited muscle disorder in the Czech population with similar clinical manifestation as in other European countries.
ER -
VOHÁŇKA, Stanislav, Josef BEDNAŘÍK, Lenka FAJKUSOVÁ a J. SEDLÁČKOVÁ. Myotonic dystrophy type 2. \textit{European Journal of Neurology}. Oxford: Blackwell Science, 2006, roč.~13, Suppl. 2, s.~152. ISSN~1351-5101.
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