MOLECULAR STUDY RAPID-ONSET DYSTONIA-PARKINSONISM-DYT12 (ATP1A3) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3956

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	75 days
Information:
Rapid-onset dystonia-parkinsonism (RDP) is characterized by abrupt onset of dystonia and parkinsonism in young adults. The exact prevalence is unknown. So far, a few families have been reported worldwide. The main clinical manifestations include sudden orofacial dystonia, dysarthria, dysphagia, involuntary dystonic spasms (predominantly of the upper limbs) and parkinsonism (bradykinesia, rigidity and postural instability). The clinical course is stationary or moderately progressive, but the disease may lead to serious disability. RDP is caused by mutations in the ATP1A3 gene (19q12-q13.2) and is transmitted in an autosomal dominant manner.
Links:
OMIM Entry - #128235 - DYSTONIA 12; DYT12
Orphanet- Rapid onset dystonia parkinsonism DYT12
OMIM Entry - -182350 - ATPase, Na+-K+ TRANSPORTING, ALPHA-3 POLYPEPTIDE; ATP1A3

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