Riley-Day Syndrome (Familial Dysautonomia)
Description
Riley-Day Syndrome (RDS), also known as Familial Dysautonomia, is a rare, inherited disorder that primarily affects the autonomic nervous system. This complex condition disrupts the body‘s ability to regulate vital functions like heart rate, blood pressure, temperature, and digestion. This blog will delve into the intricacies of RDS, covering its symptoms, causes, diagnosis, management, and ways to thrive with the condition.
Genes Involved
Riley-Day Syndrome is caused by a mutation in the IKBKAP gene. This gene provides instructions for making a protein that is crucial for the development and function of the autonomic nervous system.
Recognizing the Signs and Symptoms
The symptoms of Riley-Day Syndrome vary widely in severity and often emerge in infancy. Common signs include:
- Feeding difficulties: Infants with RDS struggle to suck, swallow, and gain weight due to poor coordination of swallowing muscles.
- Lack of tears: The inability to cry tears is a hallmark symptom.
- Breathing problems: Frequent respiratory infections, episodes of apnea (pauses in breathing), and difficulty regulating breathing are common.
- Temperature instability: RDS can lead to extreme sensitivity to temperature changes, difficulty regulating body temperature, and frequent fevers.
- Gastrointestinal issues: Constipation, diarrhea, vomiting, and difficulty with digestion are often present.
- Orthostatic hypotension: A sudden drop in blood pressure upon standing, causing dizziness and lightheadedness.
- Pain perception: Individuals with RDS may experience heightened sensitivity to pain, especially in the feet and hands.
- Skin abnormalities: Excessive sweating, poor skin turgor, and skin fragility are possible.
- Delayed development: Some individuals with RDS experience delays in reaching developmental milestones.
Causes
The cause of Riley-Day Syndrome is a genetic mutation in the IKBKAP gene. This mutation is inherited in an autosomal recessive pattern, meaning both parents must carry the mutated gene for their child to inherit the condition.
Inheritance/recurrence risk
If both parents carry the mutated IKBKAP gene, there is a 25% chance with each pregnancy that their child will inherit the condition and develop Riley-Day Syndrome. If one parent carries the mutated gene and the other does not, their children will not inherit the condition but may become carriers. There is no known cure for Riley-Day Syndrome, but early diagnosis and intervention can significantly improve quality of life.
