Familial Dysautonomia Overview
Learn About Familial Dysautonomia
Familial dysautonomia (FD) is an inherited disorder that affects nerves throughout the body.
Riley-Day syndrome; FD; Hereditary sensory and autonomic neuropathy - type III (HSAN III); Autonomic crises - familial dysautonomia
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.
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
- 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
- Unusually smooth, pale tongue surface and lack of taste buds and decrease in sense of taste
After age 3, most children develop autonomic crises. These are episodes of vomiting with very high blood pressure, racing heart, fever, and sweating.
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)
- 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
- Treating aspiration pneumonia
Carolinas Physicians Network Inc
Elijah Beaty is a Cardiologist and a Cardiac Electrophysiologist in Charlotte, North Carolina. Dr. Beaty and is rated as an Experienced provider by MediFind in the treatment of Familial Dysautonomia. His top areas of expertise are Atrial Fibrillation, Paroxysmal Supraventricular Tachycardia (PSVT), Arrhythmias, Cardiac Ablation, and Pacemaker Implantation. Dr. Beaty is currently accepting new patients.
Carolinas Physicians Network Inc
Richard Musialowski is a Cardiologist and a Cardiac Electrophysiologist in Charlotte, North Carolina. Dr. Musialowski and is rated as an Experienced provider by MediFind in the treatment of Familial Dysautonomia. His top areas of expertise are Atrial Fibrillation, Coronary Heart Disease, Atherosclerosis, and Necrosis. Dr. Musialowski is currently accepting new patients.
Carolinas Medical Center
Urvi Desai is a Neurologist and a Sleep Medicine provider in Charlotte, North Carolina. Dr. Desai has been practicing medicine for over 36 years and is rated as an Experienced provider by MediFind in the treatment of Familial Dysautonomia. Her top areas of expertise are Chronic Inflammatory Demyelinating Polyneuropathy, Facioscapulohumeral Muscular Dystrophy (FSHD), Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), and Dysferlinopathy. Dr. Desai is currently accepting new patients.
Advances in diagnosis and treatment are increasing the survival rate. About one half of babies born with FD will live to age 30.
Contact 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.
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.
Summary: The primary objective of this registry is to capture real-world safety and performance data on AtriCure devices used to ablate cardiac tissue when treating Inappropriate Sinus Tachycardia (IST) or Postural Tachycardia Syndrome (POTS). This is a retrospective and prospective, multicenter, US/OUS, observational data registry.
Summary: This is a prospective, phase 3, multicenter, double-blind, randomized placebo-controlled study to investigate the efficacy, safety, and pharmacokinetics (PK) of repeat doses of IgPro20 in participants with post SARS-CoV-2 infection 2019 postural orthostatic tachycardia syndrome (post-Coronavirus Disease 2019 \[COVID-19\] POTS \[post-COVID-POTS\]).
Published Date: November 18, 2022
Published By: Elika Hoss, MD, Assistant Professor of Dermatology, Mayo Clinic, Scottsdale, AZ. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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Wapner RJ, Dugoff L. Prenatal diagnosis of congenital disorders. In: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Silver RM, eds. Creasy and Resnik's Maternal-Fetal Medicine: Principles and Practice. 8th ed. Philadelphia, PA: Elsevier; 2019:chap 32.