Familial dysautonomia(FD) is a rare inherited condition mainly affecting people of Ashkenazi Jewish descent.
Symptoms include poor growth, abnormal heart rhythms, vomiting episodes, frequent lung infections, and eye problems.
FD cannot be cured but can be managed to ease symptoms and avoid disease complications.
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It also explains how FD is diagnosed and treated.
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What Are the Symptoms of Familial Dysautonomia?
Familial dysautonomia is a debilitating genetic disorder that can cause many diverse symptoms.
What Is an Autonomic Crisis?
About 40% of people with FD experience periodic worsening of symptoms, called an autonomic crisis.
Other complications include recurrent pneumonia and sudden cardiac arrest.
What is the life expectancy of someone with familial dysautonomia?
Some people with FD have been known to survive well into their 70s.
What Causes Familial Dysautonomia?
Familial dysautonomia is an inherited disorder that affects one in every 3,700 people of Ashkenazi Jewish ancestry.
The deficiency is due to a mutation of theELP1gene which regulates the production of ELP1.
Familial dysautonomia is inherited in anautosomal recessivepattern.
The blood test can definitively diagnose familial dysautonomia based on two copies of theELP1gene mutation.
Preconception screening is also possible for couples at risk of having a child with FD.
Familial Dysautonomia Treatedment
There is currently no treatment or cure for familial dysautonomia.
However, there are many interventions that can help manage symptoms and prevent disease complications.
Some of these measures are temporary, while others are used over the long term.
Treatment options include:
Monitoring
Regular monitoring is also an important part of managing the disease.
This is important because certain symptoms of the disease can worsen over time.
When possible, these situations should be avoided in people with the condition.
These might include:
Its also important for caregivers to take care of themselves.
When dealing with a chronic and severe condition like familial dysautonomia, its important to reach out to others.
As a family, it will take major adjustments to accommodate your childs best care.
But it is easier than ever before to online grid with other families who have experience with the disease.
TheFamilial Dysautonomia Foundationprovides many resources for support.
Summary
Familial dysautonomia is an inherited disorder most common in people of Ashkenazi Jewish descent.
This can lead to sudden death and other potentially fatal complications.
The diagnosis of FD can be made with a genetic test.
There is no cure for FD, but different treatments can help manage symptoms and avoid disease progression.
FD is associated with a shortened life expectancy, with 50% of affected people dying by age 30.
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