Riley Day Syndrome, also known as Familial Dysautonomia (FD), is a rare genetic disorder that affects the autonomic and sensory nervous systems. This condition primarily manifests in individuals of Ashkenazi Jewish descent and is characterized by various symptoms related to the malfunctioning of the autonomic system.
Individuals with Riley Day Syndrome often experience problems in maintaining normal blood pressure, heart rate, and body temperature. They may have difficulties swallowing, leading to an increased risk of choking. Another hallmark symptom is the absence or reduced perception of pain, which can result in recurrent injuries or infections due to the inability to feel discomfort.
Sensory dysfunctions are also common in Riley Day Syndrome. Affected individuals may have decreased or absent tear production, causing dryness and irritation of the eyes. They may have diminished taste and smell sensations, which can impact their ability to enjoy food or perceive certain dangerous odors.
Moreover, Riley Day Syndrome can also affect motor skills and coordination, leading to delayed milestones in development. There may also be abnormalities in the structure or functioning of the gastrointestinal system, resulting in issues such as difficulty digesting food.
Currently, there is no cure for Riley Day Syndrome. Treatment primarily focuses on managing symptoms and improving quality of life. This may involve a multidisciplinary approach, addressing various aspects like physical, occupational, and speech therapy, as well as preventive measures like regular eye exams and screenings for common complications.
