Paroxysmal movement disorders panel

Paroxysmal movement disorders panel

[18 genes]

TOURNAROUND TIME: 6 WEEKS

ATP1A2 ATP1A3 CACNA1A CACNB4
DLAT GLRA1 GLRB KCNA1
KCNMA1 KCNQ2 PDHA1 PNKD
PRRT2 SCN1A SCN9A SLC1A3
SLC2A1 SLC6A5

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 GLUT-1 deficiency)

There are other clinical pictures that do not exactly constitute movement disorders, but they 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.

RELATED PHENOTYPES
Episodic ataxia CACNA1A, CACNB4, KCNA1 y SLC1A3
Alternating hemiplegia ATP1A3 y ATP1A2
Hemiplegic migraine CACNA1A, ATP1A2 and SCN1A
Paroxysmal extreme pain disorder SCN9A
Hereditary hyperekplexia / Startle syndromes GLRA1, GLRB, SLC6A5

 

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VARIANT CLASSIFICATION
Variant classification and clinical usefulness criteria

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