Riley-Day Syndrome: Symptoms, Causes, Diagnosis and Treatment

Written by Medicover Team and Medically Reviewed by Dr Krishna Haskar Dhanyamraju , Neurologists

Causes
Find a Doctor
Diagnosis
Treatment
FAQs
Book an Appointment

1. Causes 2. Find a Doctor 3. Diagnosis 4. Treatment 5. FAQs

Riley-Day syndrome, also known as familial dysautonomia or hereditary sensory and autonomic neuropathy type III (HSAN III), is a rare inherited disorder that affects the development and survival of sensory and autonomic nerve cells.

The autonomic nervous system controls involuntary functions such as blood pressure, heart rate, breathing, digestion, tear production and body temperature. The sensory nervous system helps the body detect pain, heat and cold. Riley-Day syndrome disrupts both systems and can cause symptoms beginning in infancy.

The condition occurs most commonly in people of Ashkenazi Jewish ancestry, although rare cases have been identified in people from other backgrounds.

What Are the Types of Riley-Day Syndrome?

Riley-Day syndrome is not usually divided into multiple distinct types. It is itself classified as a specific form of hereditary sensory and autonomic neuropathy.

Familial Dysautonomia: The standard clinical name for Riley-Day syndrome, characterised by dysfunction of sensory and autonomic nerves.
Hereditary Sensory and Autonomic Neuropathy Type III: Also called HSAN III, this is the medical classification used for the same inherited disorder.

What Are the Symptoms of Riley-Day Syndrome?

Symptoms usually begin during infancy and vary in severity. They can affect breathing, swallowing, digestion, blood pressure, temperature regulation, tear production and the ability to sense pain.

Reduced Sensitivity to Pain and Temperature: Individuals may not respond normally to injuries, burns or changes in temperature.
Poor Muscle Tone: Hypotonia can affect movement and motor development during infancy.
Feeding and Swallowing Difficulties: Poor coordination can make feeding difficult and increase the risk of aspiration.
Lack of Tears: Affected children may produce few or no tears during emotional crying.
Frequent Lung Infections: Difficulty in swallowing can allow food or fluids to enter the lungs, causing aspiration pneumonia.
Unstable Blood Pressure: Blood pressure may rise or fall suddenly, causing episodes of hypertension or hypotension.
Abnormal Sweating: Excessive or reduced sweating may occur because of autonomic dysfunction.
Poor Growth: Feeding difficulties and digestive problems can contribute to slow weight gain and growth.
Delayed Development: Motor milestones may be delayed because of poor muscle tone and coordination problems.
Breath-Holding Episodes: Some children experience prolonged breath-holding that can cause fainting or bluish discolouration of the skin.
Vomiting Crises: Recurrent episodes of severe vomiting, sweating, agitation and blood pressure changes may occur.
Balance and Walking Problems: Progressive sensory nerve dysfunction can affect coordination and walking.

What Causes Riley-Day Syndrome?

Riley-Day syndrome is caused by disease-causing changes in the ELP1 gene, formerly known as the IKBKAP gene. This gene provides instructions for producing a protein that is important for the development and survival of nerve cells.

Changes in the ELP1 gene reduce the amount of functional ELP1 protein, particularly in sensory and autonomic nerve cells. This disrupts normal nerve development and function, leading to the characteristic symptoms of familial dysautonomia.

How Is Riley-Day Syndrome Inherited?

Riley-Day syndrome follows an autosomal recessive inheritance pattern. A person must inherit one altered copy of the ELP1 gene from each parent to develop the condition.

If both parents are carriers, each pregnancy has a 25% chance of resulting in an affected child.
There is a 50% chance that the child will inherit one altered gene and become a carrier.
There is a 25% chance that the child will inherit neither altered gene copy.

When to See a Doctor for Riley-Day Syndrome?

Medical evaluation by a Neurologist or Clinical Geneticist is recommended when an infant or child has persistent feeding difficulties, poor growth, reduced tear production, unusual responses to pain or temperature, unstable blood pressure, or recurrent lung infections. Early diagnosis helps prevent complications and supports long-term symptom management.

You should see a doctor if you have:

Persistent feeding or swallowing difficulties and poor weight gain
Reduced sensitivity to pain or temperature and little tear production
Repeated fainting, vomiting crises or unusual blood pressure changes

Get medical help immediately if:

Severe breathing difficulty or bluish discolouration of the lips develops
Food or fluid is inhaled into the lungs and breathing becomes difficult
A severe autonomic crisis causes persistent vomiting or extreme blood pressure changes

These could be signs of a serious Riley-Day syndrome complication needing urgent care.

Find Neurologists for Rileyday Syndrome Treatment Near You

How Is Riley-Day Syndrome Diagnosed?

Diagnosis is based on characteristic symptoms, physical examination, family history and genetic testing. Early recognition is particularly important in infants with feeding problems, absent tears and autonomic instability.

Clinical Evaluation

A healthcare provider assesses growth, muscle tone, reflexes, tear production, swallowing, blood pressure regulation and responses to pain and temperature.

Genetic Testing

Genetic testing is the main method used to confirm Riley-Day syndrome. It looks for disease-causing changes in both copies of the ELP1 gene.

Neurological Examination

A neurological examination evaluates deep tendon reflexes, sensation, coordination, muscle tone and other signs of sensory and autonomic nerve dysfunction.

Eye and Tear Production Tests

Tests may be performed to assess tear production because reduced or absent tears during emotional crying are a characteristic feature of the condition.

Respiratory and Swallowing Assessment

Swallowing studies and respiratory tests may be used to identify aspiration, breathing abnormalities and the risk of recurrent lung infections.

Blood Pressure and Heart Rate Monitoring

Monitoring may detect sudden changes in blood pressure and heart rate caused by autonomic dysfunction.

How Is Riley-Day Syndrome Treated?

There is currently no cure for Riley-Day syndrome. Treatment focuses on controlling symptoms, preventing complications and improving quality of life. Care usually involves a multidisciplinary team of specialists.

Feeding and Nutritional Support

Special feeding techniques may help reduce swallowing difficulties and aspiration.
Nutritional support can help maintain adequate growth and body weight.
A feeding tube may be considered when oral feeding is unsafe or insufficient.

Respiratory Care

Prompt treatment of respiratory infections is important.
Chest physiotherapy and airway clearance techniques may help remove mucus from the lungs.
Respiratory monitoring can identify breathing problems and aspiration complications.

Management of Blood Pressure

Medications may be used to manage severe high or low blood pressure.
Fluid intake, body position and other supportive measures may help reduce episodes of low blood pressure.

Management of Autonomic Crises

Medications may be prescribed to control vomiting, agitation and severe blood pressure changes during autonomic crises.
Severe episodes may require hospital treatment and intravenous fluids.

Eye Care

Artificial tears and lubricating eye treatments can help protect dry eyes caused by reduced tear production.
Regular eye examinations help identify and manage complications.

Physical and Occupational Therapy

Physical therapy can help maintain strength, mobility, balance and coordination.
Occupational therapy may help individuals perform daily activities more safely and independently.

Injury Prevention

Because pain and temperature sensation may be reduced, regular checks for burns, wounds, fractures and other injuries are important.
Caregivers should take precautions around hot surfaces, extreme temperatures and activities that could cause unnoticed injury.

Genetic Counselling

Genetic counselling can help families understand the inheritance pattern, carrier testing and reproductive options.

Your health is everything - prioritize your well-being today.

Consult Rileyday Syndrome Doctors Today

What Are the Risk Factors for Riley-Day Syndrome?

Because Riley-Day syndrome is an inherited disorder, the main risk factors are related to family history and carrying disease-causing variants in the ELP1 gene.

A family history of Riley-Day syndrome
Having parents who both carry an ELP1 gene mutation
Ashkenazi Jewish ancestry
Having a sibling with familial dysautonomia
A known family history of hereditary sensory and autonomic neuropathy

What Are the Complications of Riley-Day Syndrome?

Complications can affect several body systems and may become serious without regular medical monitoring and supportive care.

Aspiration pneumonia
Recurrent respiratory infections
Severe blood pressure fluctuations
Autonomic crises
Poor growth and malnutrition
Dehydration
Unnoticed burns, wounds or fractures
Spinal curvature and mobility problems
Progressive balance and coordination difficulties
Vision problems caused by chronic dry eyes or progressive nerve damage

What Is the Outlook for Riley-Day Syndrome?

Riley-Day syndrome is a lifelong and progressive condition. The severity and course vary between individuals, and respiratory complications, aspiration and autonomic instability can significantly affect health.

Advances in respiratory care, nutritional support, blood pressure management and multidisciplinary treatment have improved long-term care. Regular monitoring and early treatment of complications are essential for maintaining health and quality of life.

Frequently Asked Questions

1. What are the symptoms of Riley-Day syndrome?

Symptoms may include feeding and swallowing difficulties, poor growth, reduced tear production, recurrent lung infections, decreased sensitivity to pain and temperature, unstable blood pressure, vomiting episodes, poor balance, and developmental delays.

2. What causes Riley-Day syndrome?

Riley-Day syndrome is caused by disease-causing variants in the ELP1 gene. These genetic changes affect the development and survival of sensory and autonomic nerve cells.

3. How is Riley-Day syndrome diagnosed?

Diagnosis is based on clinical features and is confirmed by genetic testing that identifies disease-causing variants in both copies of the ELP1 gene.

4. What treatments are available for Riley-Day syndrome?

There is no cure. Treatment focuses on managing symptoms and may include respiratory care, feeding support, medications for blood pressure instability and vomiting episodes, physical therapy, and regular eye and neurological care.

5. What is the inheritance pattern for Riley-Day syndrome?

Riley-Day syndrome is inherited in an autosomal recessive pattern, meaning a person must inherit a disease-causing gene variant from both parents.

6. What is the life expectancy for Riley-Day syndrome?

Life expectancy is reduced, but it varies widely. Advances in supportive and respiratory care have improved survival, and some affected people live well into adulthood.

7. What is Riley-Day syndrome of the eyes?

Eye problems commonly include reduced or absent tears, dry eyes, corneal damage, and progressive optic neuropathy that can cause vision loss.

8. What is Riley-Day syndrome?

Riley-Day syndrome, also called familial dysautonomia or hereditary sensory and autonomic neuropathy type III (HSAN III), is a rare inherited disorder affecting the sensory and autonomic nervous systems.