Lisdexamfetamine Therapy in Paroxysmal Non-kinesigenic Dyskinesia Associated with the KCNMA1-N999S Variant.
Mov Disord Clin Pract
; 9(2): 229-235, 2022 Feb.
Article
em En
| MEDLINE
| ID: mdl-35141357
ABSTRACT
BACKGROUND:
KCNMA1-linked channelopathy is a rare movement disorder first reported in 2005. Paroxysmal non-kinesigenic dyskinesia (PNKD) in KCNMA1-linked channelopathy is the most common symptom in patients harboring the KCNMA1-N999S mutation. PNKD episodes occur up to hundreds of times daily with significant morbidity and limited treatment options, often in the context of epilepsy. CASES We report 6 cases with the KCNMA1-N999S variant treated with lisdexamfetamine (0.7-1.25 mg/kg/day), a pro-drug of dextroamphetamine. Data were collected retrospectively from interviews and chart review. Parent-reported daily PNKD episode counts were reduced under treatment, ranging from a 10-fold decrease to complete resolution.CONCLUSION:
Our findings suggest that lisdexamfetamine is an effective therapy for PNKD3 (KCNMA1-associated PNKD). Treatment produced dramatic reductions in debilitating dyskinesia episodes, without provocation or exacerbation of other KCNMA1-associated symptoms such as seizures.
Texto completo:
1
Base de dados:
MEDLINE
Tipo de estudo:
Risk_factors_studies
Idioma:
En
Revista:
Mov Disord Clin Pract
Ano de publicação:
2022
Tipo de documento:
Article