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Familial dysautonomia
Riley-Day syndrome; FD; Hereditary sensory and autonomic neuropathy - type III (HSAN III); Autonomic crises - familial dysautonomia
Familial dysautonomia (FD) is an inherited disorder that affects nerves throughout the body.
Causes
FD is passed down through families (inherited). A person must inherit a copy of the defective gene from each parent to develop the condition.
FD occurs most often in people of Eastern European Jewish ancestry (Ashkenazi Jews). It is caused by a change (mutation) to a gene. It is rare in the general population.
Symptoms
FD affects the nerves in the autonomic (involuntary) nervous system. These nerves manage daily body functions such as blood pressure, heart rate, sweating, bowel and bladder emptying, digestion, and the senses.
Symptoms of FD are present at birth and may grow worse over time. Symptoms vary, and may include:
-
Swallowing problems in infants, resulting in
aspiration pneumonia
or poor growth
Aspiration pneumonia
Pneumonia is a breathing condition in which there is swelling or an infection of the lungs or large airways. Aspiration pneumonia occurs when food, ...
ImageRead Article Now Book Mark Article - Breath-holding spells, resulting in fainting
- Constipation or diarrhea
- Inability to feel pain and changes in temperature (can lead to injuries)
- Dry eyes and lack of tears when crying
- Poor coordination and unsteady walk
-
Seizures
Seizures
A seizure is the physical findings or changes in behavior that occur after an episode of abnormal electrical activity in the brain. The term "seizure...
ImageRead Article Now Book Mark Article - Unusually smooth, pale tongue surface and lack of taste buds and decrease in sense of taste
After 3 years old, most children develop autonomic crises. These are episodes of vomiting with very high blood pressure, racing heart, fever, and sweating.
Exams and Tests
The health care provider will do a physical exam to look for:
- Absent or decreased deep tendon reflexes
- Lack of a response after receiving a histamine injection (normally redness and swelling would occur)
- Lack of tears with crying
- Low muscle tone, most often in babies
-
Severe curving of the spine (
scoliosis
)
Scoliosis
Scoliosis is an abnormal curving of the spine. Your spine is your backbone. It runs straight down your back. Everyone's spine naturally curves a b...
ImageRead Article Now Book Mark Article - Tiny pupils after receiving certain eye drops
Blood tests are available to check for the gene mutation that causes FD.
Treatment
FD can't be cured. Treatment is aimed at managing the symptoms and may include:
- Medicines to help prevent seizures
-
Feeding in an upright position and giving textured formula to prevent
gastroesophageal reflux
(stomach acid and food coming back up, also called GERD)
Gastroesophageal reflux
Gastroesophageal reflux disease (GERD) is a condition in which the stomach contents leak backwards from the stomach into the esophagus (the tube from...
ImageRead Article Now Book Mark Article - Measures to prevent low blood pressure when standing, such as increasing intake of fluid, salt, and caffeine, and wearing elastic stockings
- Medicines to control vomiting
- Medicines to prevent dry eyes
- Physical therapy of the chest
- Measures to protect against injury
- Providing enough nutrition and fluids
-
Surgery or
spinal fusion
to treat spine problems
Spinal fusion
Spinal fusion is surgery to permanently join together two or more bones in the spine so there is no movement between them. These bones are called ve...
ImageRead Article Now Book Mark Article - Treating aspiration pneumonia
Support Groups
These organizations can provide support and more information:
- Dysautonomia Foundation -- www.familialdysautonomia.org
- National Organization for Rare Disorders -- www.rarediseases.org
Outlook (Prognosis)
Advances in diagnosis and treatment are increasing the survival rate. About half of babies born with FD will live to age 30.
When to Contact a Medical Professional
Call your provider if symptoms change or get worse. A genetic counselor can help teach you about the condition and direct you to support groups in your area.
Prevention
Genetic DNA testing is very accurate for FD. It may be used for diagnosing people with the condition or those who carry the gene. It can also be used for prenatal diagnosis.
People of Eastern European Jewish background and families with a history of FD may wish to seek genetic counseling if they are thinking of having children.
References
Katirji B. Disorders of peripheral nerves. In: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology in Clinical Practice . 7th ed. Philadelphia, PA: Elsevier; 2016:chap 107.
Sarnat HB. Autonomic neuropathies. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 615.
Wapner RJ. Prenatal diagnosis of congenital disorders. In: Creasy RK, Resnik R, Iams JD, Lockwood CJ, Moore TR, Greene MF, eds. Creasy and Resnik's Maternal-Fetal Medicine: Principles and Practice . 7th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 30.
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Chromosomes and DNA - illustration
Humans typically have 23 pairs chromosomes, or 46 chromosomes in total. Chromosomes are made up of long strands of DNA, which contain all the body's genes.
Chromosomes and DNA
illustration
Review Date: 10/30/2016
Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
