The Clinical Spectrum of ANO3-Report of a New Family and Literature Review.

ABSTRACT:

Background

Mutations in ANO3 are a rare cause of autosomal dominant isolated or combined dystonia, mainly presenting in adulthood.

Cases

We extensively characterize a new, large ANO3 family with six affected carriers. The proband is a young girl who had suffered from tremor and painful dystonic movements in her right arm since the age of 11 years. She later developed a diffuse dystonic tremor and mild extrapyramidal signs (ie, rigidity and hypodiadochokinesis) in her right arm. She also suffered from psychomotor delay and learning difficulties. Repeated structural and functional neuroimaging were unremarkable. A dystonic tremor was also present in her two sisters. Her paternal aunt, father, and a third older sister presented episodic postural tremor in the arms. The father a

SUBMITTER: Percetti M 

PROVIDER: S-EPMC10928356 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature