Arts syndrome

Arts syndrome, also known as lethal ataxia with deafness and optic atrophy, is a rare condition that affects several parts of the body. This condition is characterized by difficulties with movement and coordination, along with vision and hearing problems, and challenges with intellectual development. The condition is identified by early-onset symptoms that include low muscle tone and delayed motor milestones. The term 'lethal' in some descriptions reflects the serious nature of Arts syndrome. The condition is recognized by health professionals for its impact on multiple systems of the body, making management complex. Information provided here is based on established definitions and disease entries from trusted sources.

People with Arts syndrome typically experience a range of symptoms. Common signs include intellectual deficit, low muscle tone (hypotonia), and problems with movement (ataxia) that lead to delays in reaching motor milestones. In addition, hearing impairment and loss of vision due to optic atrophy are key features of the condition.

Arts syndrome is associated with genetic changes and is inherited in an X-linked recessive pattern. The condition has been linked to mutations in the PRPS1 gene. Because it is inherited in this way, the gene change is typically passed down through families, affecting mainly males.

Information about treatment is currently limited for this condition.

The prognosis for Arts syndrome is generally poor due to the severe and multi-system nature of the symptoms. The condition is considered life-limiting, and the course of the disease can vary. However, detailed long-term outcomes and quality of life considerations are still under study.

Information about current research and future directions is currently limited for this condition.