KCNN2 Mutation in Pediatric Tremor Myoclonus Dystonia Syndrome with Electrophysiological Evaluation.
Tremor Other Hyperkinet Mov (N Y)
; 12: 2, 2022.
Article
en En
| MEDLINE
| ID: mdl-35106185
ABSTRACT
BACKGROUND:
Here we combine clinical, electrophysiological, and genetic findings to phenotype an unusual childhood movement disorder in a patient with a rare form of KCNN2 mutation. CASE REPORT A 10-year-old male presented with a clinical syndrome of tremor and myoclonus. Electrophysiology demonstrated muscle activity indicative of myoclonus dystonia, an observation that was not appreciated clinically. Genetic testing revealed an abnormality in the KCNN 2 gene, not present in the parents, known to cause dystonia, as the etiology.DISCUSSION:
The value of utilizing noninvasive, electrophysiological recording in pediatric movement disorders expands the precision of diagnosis, potentially informing treatment when correlated with clinical and genetic findings.Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Distonía
/
Trastornos del Movimiento
/
Mioclonía
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Tremor Other Hyperkinet Mov (N Y)
Año:
2022
Tipo del documento:
Article
País de afiliación:
Estados Unidos