Familial Dysautonomia: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Familial Dysautonomia?
Care for familial dysautonomia is often led by a neurologist, a doctor who treats brain and nerve conditions, and a medical geneticist, a doctor who works with inherited conditions. Children may also see a pediatrician, a doctor for kids. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is familial dysautonomia?
Familial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. It disturbs cells in the autonomic nervous system. This system controls actions you do not think about, such as digestion, breathing, making tears, and keeping blood pressure and body temperature steady. It also affects the sensory nervous system, which controls the senses, such as taste and the feeling of pain, heat, and cold.
Another name for it is Riley-Day syndrome. It occurs mostly in people of Ashkenazi Jewish descent. This means central or eastern European Jewish ancestry. It is extremely rare in the general population.
Symptoms
Problems first appear during infancy. Early signs include:
- Poor muscle tone, called hypotonia.
- Trouble feeding and poor growth.
- A lack of tears, since a baby may cry without tears.
- Frequent lung infections.
- Trouble keeping a steady body temperature.
Older babies and young children may hold their breath for a long time, which can make the skin or lips look bluish or cause fainting. This breath-holding usually stops by age 6. Walking and speech are usually delayed, although some children show no delay.
School-age children may also have:
- Bed wetting and episodes of vomiting.
- Less sensitivity to changes in temperature and to pain.
- Poor balance.
- Scoliosis, an abnormal curve of the spine.
- Weak bones and a higher risk of broken bones.
- Kidney and heart problems.
Because pain is felt less, injuries and broken bones can go unnoticed. About one-third of children have learning disabilities, such as a short attention span.
Blood pressure is poorly controlled. It can drop sharply when a person stands up, which can cause dizziness, blurred vision, or fainting. It can also rise when the person is nervous, excited, or vomiting.
By adulthood, balance and walking often get harder. Repeated infections can damage the lungs, and kidney function can weaken. Vision can get worse as the optic nerves shrink. These nerves carry signals from the eyes to the brain.
Causes and who gets it
Mutations in the ELP1 gene cause familial dysautonomia. The gene gives instructions for making a protein found in many cells, including brain cells. Nearly all people with the disorder have two copies of the same gene change in each cell. As a result, the body makes a reduced amount of the normal ELP1 protein.
The condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents each carry one copy of the changed gene, but they typically do not show signs of the condition. When both parents are carriers, the risk of having an affected child is 25 percent, and it is the same for each pregnancy. It affects males and females in equal numbers.
About 1 in 3,700 people in Ashkenazi Jewish groups have it. About 1 in 30 people of East European Jewish ancestry are thought to be carriers of the changed gene. A carrier test is available for Ashkenazi Jewish people, and a doctor can give details.
How doctors diagnose it
Crying without tears is one of the most striking symptoms of familial dysautonomia. Genetic tests that look at the ELP1 gene are listed in the NIH Genetic Testing Registry.
Treatment
Treatment aims to ease symptoms. Medicines can be used to relieve symptoms, and artificial tears may be needed to keep the eyes moist. Physical, occupational, and speech therapy may also ease symptoms. So may chest physiotherapy and feeding help. People with the condition may also benefit from orthopedic aids, which support bones and joints, and from vision aids. Genetic counseling is helpful for patients and their families.
When to see a doctor
See a doctor if a baby or child has trouble feeding, poor growth, a lack of tears, or frequent lung infections. Call 911 or go to the emergency room if a child has trouble or abnormal breathing, bluish or gray skin, a seizure, or is not alert or does not respond normally.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Such a doctor can review symptoms, help plan specialist visits, and track general health.
Common questions
Is familial dysautonomia the same as Riley-Day syndrome?
Yes, Riley-Day syndrome is another name for familial dysautonomia.
Who is most likely to have familial dysautonomia?
People of Ashkenazi Jewish descent are most likely to have it. It is extremely rare in the general population.
How is familial dysautonomia passed down?
It is passed down in an autosomal recessive pattern, so a child needs a changed gene from both parents. Parents who each carry one copy usually have no signs of the condition.
Can familial dysautonomia affect more than the nerves?
Yes, over time it can also affect the lungs, kidneys, heart, bones, and eyes. Repeated infections can damage the lungs, and the optic nerves can shrink, which worsens vision.
Sources
- MedlinePlus Genetics - Familial dysautonomia
- National Organization for Rare Disorders - Dysautonomia, Familial
- NIH Genetic Testing Registry - Familial dysautonomia
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
