Another Twist in the Tale: Intrafamilial Phenotypic Heterogeneity in ANO3-Related Dystonia.

ABSTRACT:

Background

Mutations in the anoctamin 3 (ANO3) gene cause autosomal dominant craniocervical dystonia (DYT24), presenting from childhood to mid-life. However, in the past years, the clinical spectrum of this disorder has widened. We present a family with heterogeneous presentation, exemplifying phenotypic diversity in DYT24.

Cases

The index case presented with myoclonic dystonia at age 10. His family history was remarkable for cervical dystonia with myoclonus in his grandfather, cervical and upper limb dystonia along with dopa-responsive parkinsonism in his father and lower-limb dystonia in his teenage sister. Magnetic resonance imaging and blood work-ups of all the affected family members were normal. The genetic panel for inherited forms of dystonia disclosed a point

SUBMITTER: Carvalho V 

PROVIDER: S-EPMC8287195 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature