Publication details
Myotonická dystrofie - Jednota v různosti
| Title in English | Myotonic dystrophy - Unity in diversity |
|---|---|
| Authors | |
| Year of publication | 2017 |
| Type | Article in Periodical |
| Magazine / Source | Česká a slovenská neurologie a neurochirurgie |
| MU Faculty or unit | |
| Citation | |
| Doi | http://dx.doi.org/10.14735/amcsnn2017255 |
| Field | Neurology, neurosurgery, neurosciences |
| Keywords | Myotonic dystrophy type 1; Myotonic dystrophy type 2; Proximal myotonic myopathy |
| Description | Myotonic dystrophy is the most frequent muscular dystrophy of adult age characterised by muscle weakness, myotonia, cataracts, and autosomal dominant inheritance. The disease is caused by trinucleotide expansion in the DMPK gene in case of myotonic dystrophy type 1 (MD1) and tetranucleotide expansion in the CNBP/ZNF9 gene in myotonic dystrophy type 2 (MD2). The accumulation of RNA transcripts and its toxicity leads to dysregulation of many other genes, providing a clue for understanding of the broad clinical spectrum of the disease. MD1 manifests from birth (congenital) to adulthood. Severity and time of onset correlate with the number of repeats. On the contrary, MD2 is a disease with an onset during adult age only. Localisation of muscle weakness is also different; the facial muscles, paraspinal, distal muscles of upper and lower limbs are affected in case of MD1 and the proximal muscles, esp. of lower limbs are involved in patients suffering from MD2 - this localisation determined the former name: proximal myotonic myopathy. In contrast to MD1 that has worldwide prevalence, MD2 is predominantly restricted to middle and northern Europe. The heart conduction system (arrhythmias) is affected in patients with either type of the disease. In general, the impact of the disease is more severe in patients with MD1 than in MD2. Due to involvement of many systems, a multidisciplinary approach and team should be involved in the management of these patients. |