Familial Dysautonomia
A genetic disorder that affects the development and survival of certain nerve cells.
Impact of Gene Variants
Mutations in the IKBKAP gene lead to dysfunction in nerve cell development and function, causing the characteristic symptoms of familial dysautonomia such as autonomic nervous system dysfunction, gastrointestinal issues, and impaired pain perception.
Ways to Recognize Problems
Symptoms of familial dysautonomia include poor growth, difficulty swallowing, unstable blood pressure and heart rate, gastrointestinal problems, and impaired pain perception. Genetic testing is necessary to confirm the presence of mutations in the IKBKAP gene.
Ways to Improve
Management of familial dysautonomia focuses on symptom relief and supportive care. This may include medications to manage blood pressure and heart rate, nutritional support, physical therapy, and interventions to address gastrointestinal issues. Regular monitoring and medical follow-ups are essential for optimizing care and improving outcomes.
Did you know
Familial dysautonomia is particularly prevalent in people of Ashkenazi Jewish descent.
