Status Dystonicus, Oculogyric Crisis and Paroxysmal Dyskinesia in a 25 Year-Old Woman with a Novel KCNMA1 Variant, K457E.
Tremor Other Hyperkinet Mov (N Y)
; 10: 49, 2020 10 27.
Article
in En
| MEDLINE
| ID: mdl-33178487
ABSTRACT
The diagnosis of a paroxysmal dyskinesia is difficult and status dystonicus is a rare life threatening movement disorder characterised by severe, frequent or continuous episodes of dystonic spasms. A 25 year old woman with chronic ataxia and paroxysmal dyskinesia presented with facial twitching, writhing of arms, oculogyric crisis and visual and auditory hallucinations. She developed respiratory failure and was ventilated. No cause was found so whole exome sequencing was performed and this revealed a novel, non-synonymous heterozygous variant in exon 11 of the KCNMA1 gene, K457E (c 1369A>G) in the patient but not her parents. This variant has not been previously reported in gnomAD or ClinVar. The finding of a de novo variant in a potassium channel gene guided a trial of the potassium channel antagonist 3,4 diaminopyridine resulting in significant improvement, discharge from the intensive care unit and ultimately home.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Ataxia
/
Ocular Motility Disorders
/
Chorea
/
Dystonia
/
Large-Conductance Calcium-Activated Potassium Channel alpha Subunits
/
Hallucinations
Limits:
Adult
/
Female
/
Humans
Language:
En
Journal:
Tremor Other Hyperkinet Mov (N Y)
Year:
2020
Type:
Article
Affiliation country:
Ireland