Servella Syndrome

Cervella syndrome is a rare genetic disorder that affects a person's ability to recognize sensory sensations. The disease manifests itself at an early age and can lead to vision and hearing impairment. Cervella syndrome is characterized by the inability of people to distinguish sensations from different modalities, such as sound, color or shape. This can cause problems with behavior, motor coordination, social interaction and other serious impairments.

The reasons why the disease is named after the French scientist Charles Adolphe Servell are unknown, but it has been suggested that it may be due to a genetic mutation in the SLC26A4 gene. This gene encodes a protein that is involved in the exchange of Na+ ions in brain cells. As a result of protein mutation, these ions can no longer function correctly and this disrupts the transmission of nerve impulses.

Symptoms of Servell syndrome can be divided into three groups: - Sensory disturbances. People with the syndrome may have difficulty distinguishing and recognizing sounds, colors or shapes, or judging the distance to objects. Sometimes symptoms of the disease include sound sensitivity and blindness. - Problems with attention. People with Servell may exhibit decreased attention, difficulty concentrating, and impaired processing of information. - Cognitive impairment