Challenging Diagnosis of a Patient with Two Novel Variants in the Gene.

Challenging Diagnosis of a Patient with Two Novel Variants in the Gene.

We report a case of -associated autosomal recessive spinocerebellar ataxia (SCAR8) presenting with a complex multisystemic phenotype, including highly elevated creatine kinase levels and lower-leg muscle atrophy. In addition to identifying two novel pathogenic variants in the gene, whole-exome sequencing revealed three variants of uncertain significance in the gene. Electromyography and muscle magnetic resonance imaging indicated a neurogenic pattern of muscle involvement. These findings, along with the segregation analysis of the variants, allowed us to exclude -associated muscular dystrophy; however, we cannot entirely rule out the possibility that the gene variants may act as modifiers of the patient’s phenotype.