Paroxysmal movement disorders panel [18 genes]
Paroxysmal movement disorders are a heterogeneous group of diseases with recurring episodes of symptoms related to involuntary movements, characterized by a sudden onset and a more or less abrupt disappearance after a variable period.
Strictly speaking, this definition includes several known forms of episodic dyskinesia, classified below according to their triggering factor:
- Paroxysmal kinesigenic dyskinesia (particularly associated with pathogenic variants in the PRRT2 gene)
- Paroxysmal non-kinesigenic dyskinesia (particularly associated with pathogenic variants in PNKD and KCNMA1)
- Exercise-induced dyskinesia (particularly associated with pathogenic variants in the SLC2A1 gene, also known as glucose transporter deficiency, or GLUT1, deficiency).
There are other clinical pictures that do not exactly constitute movement disorders, but share the common characteristic of paroxysmal neurological symptoms with a fairly similar pathophysiological basis (many of them are channel-mediated) that, on occasion, can overlap to some degree in common clinical practice.
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
- ATP1A3, ATP1A2: Alternating hemiplegia
- CACNA1A, ATP1A2, SCN1A: Hemiplegic migraine
- CACNA1A, CACNB4, KCNA1, SLC1A3: Episodic ataxia
- GLRA1, GLRB, SLC6A5: Hyperekplexia clinical pictures
- SCN9A: Paroxysmal extreme pain disorder