Novel de novo heterozygous CACNA1A gene variant in generalised dystonia: a case report.

ABSTRACT:

Background

Dystonia is a genetic or non-genetic movement disorder with typical patterned and twisting movements due to abnormal muscle contractions that may be associated with tremor. Genetic and phenotypic heterogeneity leads to variable clinical presentation.

Methodology

Next-generation sequencing technologies are being currently used in the workup of patients with inherited dystonia to determine the specific cause in the individuals with autosomal dominant, recessive, X-linked or mitochondrial inheritance patterns. Calcium voltage-gated channel subunit alpha1 A (CACNA1A) gene variants are rare in dystonias.

Results

We here present a 20-year-old man with a history of delayed milestones, flexor posturing, dysarthria, dysphagia and a negative family history from consa

SUBMITTER: Alshareet M 

PROVIDER: S-EPMC11191759 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature