Cervical dystonia and no oculomotor apraxia as new manifestation of ataxia-telangiectasia-like disorder 1 – case report and review of the literature

Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare neurodegenerative associated with early onset ataxia and oculomotor apraxia. The genetic determination of ATLD1 mutation in the MRE11 gene (meiotic recombination 11 gene), which causes DNA-double strand break repair deficits. Clinical features patients resemble those telangiectasia (AT), slower progression milder presentation. Main symptoms include progressive cerebellar ataxia, apraxia, cellular hypersensitivity to ionizing radiations. Facial dyskinesia, dystonia, dysarthria have also been reported. Here we present 45-year old woman cervical facial who turned out be first case ATLD without dystonia as main manifestation disease. She had presented non-specific for years, before whole exome sequencing confirmed diagnosis.