Familial dysautonomia is a progressive disorder in which there is a defect of the autonomic and sensory nervous systems. Clinical signs and symptoms are present from birth and affect the functions of most body systems. These include the cardiovascular, gastrointestinal, neurological, renal and other systems.
If you have just received a diagnosis there is help and support available – please see ‘Further information and support’ below for links to valuable resources. It is also important to note that not every person with this condition experiences all the symptoms described and it is worth talking to your doctor or other relevant healthcare specialists to discuss you or your family member’s individual case.
Familial Dysautonomia is an autosomal recessive condition.
Symptoms and severity vary across individuals, however some common signs and symptoms include:
- Eyes: absence of overflow tears when crying, absence of corneal reflex, frequent conjunctival redness, corneal scars and optic nerve atrophy
- Gastro intestinal tract: Poor suck at birth, drooling or feeding problems, gastroesophageal reflux, nausea and vomiting, diarrhoea and constipation, impaired gastrointestinal motility, and gall stones.
- Musculoskeletal system: Reduced muscle tone or “floppy baby” signs, early spinal curvature, fractures, orthopaedic abnormalities and osteomyelitis.
- Respiratory system: frequent aspirations leading to recurrent pneumonia, chronic lung disease, bronchiectasis, restrictive lung disease, decreased carbon dioxide sensitivity and impaired oxygen sensitivity, sleep apnea and sudden unexpected death during sleep.
- Sensory: decreased pain and temperature perception, decreased pain in bones and reduced or absent taste buds at the edge of the tongue.
- Cardiovascular: blood pressure variability, episodes of hypertension, postural hypotension, dizziness, fainting and an irregular heartbeat.
- Skin: blotching (when in stress or eating), excessive sweating and an abnormal reaction to histamine. increased risk for wounds and infections.
- Renal: progressive decrease of renal function with age, increased incidence of renal defects, low sodium and elevated potassium.
- Neurology: Seizures, progressive gait ataxia, involuntary eye movements, reduced tendon reflexes and developmental delay.
- Psych: anxiety, depression. obsessive compulsive behaviours including picking and self-mutilation.
- General: poor weight gain and growth
Intelligence can be normal despite delays in certain developmental milestones such as walking or speech, however IQ is usually lower than siblings in the same family.
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The disorder is caused by changes in the IKBKAP gene resulting in decreased production of a vital protein called IKAP. This protein is thought to have a role in the growth, development and functioning of the sensory and autonomic nervous systems.
Although no cure exists currently, a number of symptomatic therapies and surgical interventions can help to control the disorder signs and symptoms. In addition, paramedical treatment can be used to promote muscle strength and speech.
Symptoms progress with age and typically affect lifespan. However, as treatment is better understood, people with familial dysautonomia are experiencing an increased life expectancy and a better quality of life.
Historically this disorder was diagnosed clinically by a doctor familiar with the symptoms and by using a histamine test. However, when suspected the diagnosis should be confirmed or ruled out through genetic testing that involves a simple blood test.
Genetic analysis has identified four mutations for familial dysautonomia, and the major one accounts for over 99% of cases of the disorder in people of Ashkenazi Jewish ancestry. Both carrier testing and prenatal diagnosis are possible for this disorder.
Please refer to the testing section for more details.
Formerly known as DSGB. The only UK based charity dedicated to alleviating the suffering from FD. It helps provide specialized equipment, medication, support and respite for FD patients and families; facilitates access to international FD specialists and expertise; raises public awareness of FD and promotes screening for the disorder.
This USA based charity supports medical treatment, research, public awareness and social services for the benefit of people affected by FD. It has established the world’s only two FD treatment centers and is the largest single source of funding for research and treatment specifically for the benefit of people with FD.
An international group on Facebook for people with Familial Dysautonomia.
Click on the ‘Jane’s Story’ link above to see a short video of Jane Pearl sharing her family’s personal story of having a child affected by Familial Dysautonomia.
To find out more about general resources relevant to Jewish genetic disorders, please visit our resources and support section.
Written by Jnetics.
Approved by Professor Chana Maayan, Director of the Israeli Familial Dysautonomia centre, Hadassah University Hospital, Jerusalem and Christy Spalink, Acute Care Nurse Practitioner, The NYU Dysautonomia Center, NYU School of nursing.
Last review: 09.07.2018