Understanding Familial Dysautonomia (FD): Causes, Symptoms, and Management

What is it?

Familial dysautonomia (FD) is a rare,recessive dominant, progressive disease of the autonomic nervous system. This condition affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system. FD is a disorder from the group of disorders known as hereditary sensory and autonomic neuropathies (HSAN). The cause for the disease is a mutation in IKBKAP gene, which encodes to the IKAP protein. These mutations are especially common in the Ashkenazi Jewish population. Familial dysautonomia symptoms usually begin in childhood and become worse with age

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Additional names

This group contains additional names:
- Bilateral shoulder hand syndrome
- Horners syndrome
- Multisystem degeneration of autonomic nervous system

Signs & symptoms

Symptoms may include gastrointestinal dysmotility, gastroesophageal reflux, dysphagia, choking, gagging, vomiting, poor weight gain, developmental delays, recurrent aspiration pneumonia, chronic lung disease, absence of tears when crying, corneal ulcers, red skin, excessive sweating, breath-holding spells, nasal voice, tongue ulcers, hyporeflexia, hypotonia, enuresis, arrhythmias, hypertension, hypotension, tachycardia, impaired temperature and pain perception, smooth glossy tongue, scoliosis, abnormal gait, short stature, chronic renal failure, visual impairment, typical facial features and impaired taste perception.
Autonomic crisis, which are recurrent episodes of vomiting, may happen to children with FD. It usually happens as a response to physical or emotional stress and lasts for over 24 hours. Other symptoms may include hypertension, breathing difficulties, tachycardia, aspiration pneumonia, drooling and personality change.

Diagnosis

Diagnosis of FD may be based upon anamnesis and physical examination. Babies with FD usually weigh less than average at birth, they have typical physical appearance- asymmetry of the face, tense facial expression, thin lips, strabismus, hypotonia, drooling. When injected with histamine, there is no redness surrounding the flare. In a methacholine test, the pupil of an FD patient will narrow due to overreaction of the parasympathetic nervous system. Genetic testing can confirm the diagnosis. A prenatal screening test for the parents is recommended in some populations like Ashkenazi Jews.

Treatment

Currently, there is no cure for FD, and the patients are treated for their symptoms such as artificial tears, appropriate feeding strategies, avoidance of aspiration, daily chest physiotherapy, diazepam for autonomic features, treatment of orthopedic problems and blood pressure.

☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.

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Source of Information - We analyze big data of more than 23 million patients de-identified medical records from the following sources:

National Institution of Health ∙ World Health Organization ∙ University of Illinois hospital