I wanted to introduce you to the MDSGene database: https://www.mdsgene.org/g4d
Some of you may already be familiar with it.
MDSGene systematically links reported genetic mutations with movement disorder phenotypes and other demographic and clinical information. The number of reported causative genes and mutations in genetically heterogeneous diseases, including movement disorders, has substantially grown in past years. However, the growing number of publications makes it increasingly difficult even for movement disorder specialists to follow and interpret these results. If you work clinically in the field of movement disorders, this website may help you to find the correct diagnosis for your patients or to better categorize results.
The content of MDSGene is based on genetic as well as phenotypic and clinical data extracted from the relevant literature by an experienced team of movement disorders specialists, geneticists, and epidemiologists following systematic and regularly updated literature screens. They are identified following systematic PubMed searches based on standardized search terms. Demographic, clinical, and genetic data are extracted adhering to a standardized data extraction protocol. Whenever necessary, mutations are remapped to the human genome build 19, and mutation identifiers are renamed according to the Human Genome Variation Society (HGVS) nomenclature. Mutation carriers are only included if clinical data has been provided and indicated that he/she is affected by a movement disorder.
The following movement disorders are presented on the website.
Spinocerebellar ataxia
Chorea
Dystonia (isolated dystonia & combined dystonia)
Dystonia/Parkinsonism (dopa-responsive dystonia & x-linked dystonia-parkinsonism & rapid-onset dystonia-parkinsonism & other forms of dystonia-parkinsonism)
Hereditary spastic paraplegia
Parkinsonism (classical parkinsonism, dominant forms & early-onset parkinsonism, recessive forms & atypical parkinsonism)
Paroxysmal movement disorders (episodic ataxia & paroxysmal dyskinesia & spinocerebellar ataxia)
Primary familial brain calcification
Using the “Signs&Symptoms” section you can enter sign- and symptom-based queries and receive possible diagnoses and reported mutations.
References:
Lill CM, Mashychev A, Hartmann C, Lohmann K, Marras C, Lang AE, Klein C, Bertram L. Launching the movement disorders society genetic mutation database (MDSGene). Mov Disord 2016;31:607-609.