Publication details
Myotonic dystrophy type 2
| Authors | |
|---|---|
| Year of publication | 2006 |
| Type | Article in Periodical |
| Magazine / Source | European Journal of Neurology |
| MU Faculty or unit | |
| Citation | |
| Field | Neurology, neurosurgery, neurosciences |
| Keywords | Myotonic dystrophy type 2; epidemiology; Czech population |
| Description | 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. |
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