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Familial Dysautonomia

Familial Dysautonomia



Overview

Familial dysautonomia (FD) is a condition that causes problems with your nervous system. You have this condition from birth.

Familial dysautonomia affects your body’s involuntary actions, such as:

Breathing.

Digesting.

Forming tears.

Regulating your blood pressure and body temperature.

Salivating.

It also affects your sensory nervous system. This includes:

Ability to taste.

Sensitivity to pain and temperature.

You inherit FD from a gene change (mutation) passed down from your parents. Familial dysautonomia is also called:

Riley-Day syndrome.

Type III hereditary sensory and autonomic neuropathy (HSAN type III).

Familial dysautonomia can increase the risk of developmental delay. People with this condition also have shorter life expectancies.

Symptoms

Symptoms of FD begin in infancy. Early symptoms may include:

Difficulty feeding.

Difficulty swallowing (dysphagia).

Inability to maintain body temperature.

Lack of tears when crying.

Poor growth.

Poor muscle tone (hypotonia).

As a child ages, they may hold their breath for extended periods of time. This breath-holding behavior usually ends by 6 years of age.

As the disease progresses, symptoms may include:

Abnormal heart rhythms (arrhythmia).

Abnormal sense of taste.

Abnormal spine curving (scoliosis).

Balance problems and gait disorders.

Bedwetting.

Chronic acid reflux (GERD).

Developmental delays, such as delayed speech and trouble walking.

Excess saliva.

Eye problems, including dry eyes and crossed eyes (strabismus).

Inability to feel pain and temperature changes.

Low vision and vision loss.

Lung infections.

Poor bone quality (osteoporosis) and increased risk of bone fractures.

Poor control of breathing, especially during sleep.

Seizures (epilepsy).

Vomiting.

Many people with familial dysautonomia have problems regulating blood pressure. This can lead to low blood pressure (orthostatic hypotension) when standing, which can cause dizziness or fainting. High blood pressure (hypertension) can also lead to kidney disease.

About 40% of people with FD have periods of time when symptoms worsen (autonomic crises). During these times, you may experience:

Fever.

Heart palpitations.

High blood pressure.

Reddish skin.

Sweating.

Vomiting.

Causes

Genetic changes (mutations) cause familial dysautonomia. Both of your parents must carry a mutation in a gene called ELP1. The ELP1 gene makes a protein that helps your nervous system develop. If this gene has a mutation, problems occur with parts of your nervous system

Diagnosis

Your healthcare provider will first ask about your symptoms. They will also do a physical exam.

Your provider will look for an absence of tears when you cry. For children younger than 6 months, they may use the Schirmer test:

They place the end of filter paper in the far corner of your child’s lower eyelid.

After five minutes, less than 10 millimeters of wetness means your child may have familial dysautonomia.

Your provider will also look for:

Decreased tendon reflexes: If you have FD, you won’t react when a provider taps your muscles.

Reaction to a histamine injection: If you have FD, the injection won’t cause redness and swelling.

Reaction to eye drops (methacholine): After about 20 minutes, you will have smaller pupils if you have FD.

Smooth-looking tongue: If you have FD, you lack structures that house taste buds in the center of the back of your tongue (fungiform papillae).

If your provider suspects FD, they may suggest genetic testing. This involves a blood test to check for the gene change (mutation) that causes familial dysautonomia.

Treatment

FD treatment focuses on reducing your symptoms. Treatments may include:

Antibiotics or chest physiotherapy to help with lung infections.

Compression socks or a permanent pacemaker to address orthostatic hypotension.

CPAP or bilevel positive airway pressure (often known under the trade name BiPAP®) to help with breathing during sleep.

Eye drops to protect your corneas.

IV fluids to rehydrate after vomiting.

Medications to help with GERD, kidney disease, saliva production, seizures or vomiting.

Occupational therapy to assist with day-to-day activities.

Physical therapy to improve balance.

Surgery to help with spine problems.

Tube feeding (enteral nutrition) for increased nutrition.

Researchers continue to study new treatments in clinical trials. These treatments could help treat the disease itself and not only the symptoms.

Type of Doctor Department : A Neurologist

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