SCA 5: a Differential Diagnosis of Ataxic Cerebral Palsy

Case presentation: A 2.5-year-old girl presented to the Outpatient Neurogenetic Clinics of tertiary reference center, with motor delay since birth. At 2.5 years, she does not crawl, stands or walk. Perinatal history was unremarkable, there no consanguinity, neither family neurological diseases. Neurological exam showed a cognitive and speech delay. Her dysarthric. Cranial nerves were intact normal extraocular movements without nystagmus. Muscle tone globally reduced ankle joints had limited range movement. strength normal. Deep tendon reflexes attenuated. She predominant axial ataxia mild appendicular ataxia. able stand support knee-ankle-foot orthoses. Electromyography nerve conduction Brain MRI volume cerebellar vermis hemispheres associated prominence inferior olive nucleus. Standard laboratory tests Whole exome sequencing (WES) de novo heterozygous likely-pathogenic missense variant in SPTBN2 (NM_006946.3: c.1052G>C, p.Arg351Pro), previously Spinocerebellar type 5 (SCA5).