Dystonia

INDEX

The list of predominant movement disorders includes:

The prefix DYT refers to the fact that dystonia is the dominant movement disorder in the majority of cases11.

The prefix is followed by the gene name, eg DYT-TOR1A.

When more than one movement disorder is a prominent feature and these movement disorders generally coexist in an individual, a double prefix would be assigned (eg DYT/PARK-ATP1A3) and the symbol would belong to more than one list. This naming system conveys that the responsible gene has been defined, and maintains the connection between the phenotype (dystonia) and the gene9.

In general, symbols for genes are italicized (eg IGF1), whereas symbols for proteins are not italicized (eg IGF1). The formatting of symbols for RNA and complementary DNA (cDNA) usually follows the same conventions as those for gene symbols.

One major drawback of the proposed naming system is that the previous system of numerical designations (eg DYT1) was much easier to use than remembering complex gene names. Although remembering gene names is more difficult than remembering single numbers, it is likely that the expansion of our knowledge of genetically determined disorders will quickly result in the inability to remember complete lists of any sort.

It is highly likely that use of gene panels and whole exome sequencing will become routine for the investigation of generalised and focal forms of dystonia, especially in childhood, adolescent and young adult onset.