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Familial Dysautonomia

What are the symptoms?

The most distinctive feature of FD is the absence of overflow tears with emotional crying although it can be normal for a child not to produce tears until seven months of age.

In babies with FD there is a high prevalence of breech presentation births and poor muscle tone (floppy babies).

Other features include:

  • a weak or absent suck.
  • respiratory congestion due to misdirected swallowing.
  • blotching of skin.
  • difficulty in maintaining temperature.

Difficulty in feeding is observed in sixty per cent of infants in the neo-natal period. Poor sucking and misdirected swallowing often persist and put the child at risk from aspiration pneumonia which is even more likely to occur if the child also has gastro-oesophageal reflux.

In older children symptoms may include:

  • Delay in developmental milestones such as walking and speech.
  • Poor balance and unsteady gait.
  • Scoliosis (spinal curvature) eighty-five per cent before ten years of age.
  • Orthostatic hypotension-extreme drop in blood pressure with change in posture.
  • Breath holding until fainting in early years.
  • Episodic vomiting.
  • Excessive drooling and sweating.
  • A smooth tongue and decrease in sense of taste.
  • Inappropriate temperature control with very high to very low temperatures.
  • Poor weight gain and growth.
  • Frequent lung infections.
  • Decreased reaction to pain or no reaction at all.
  • Cold puffy hands and feet.
  • Extremes of blood pressure.
  • Corneal abrasions and dry eyes.
  • Gastric dysmotility.
  • Dysautonomic 'crisis.'

Dysautonomia crisis is a constellation of symptoms that include nausea, high blood pressure, fast heart rate and a change in personality. It is usually caused by stress and that stress can be either physical, such as an infection, or emotional, such as an upcoming exam. Whatever the catalyst, the child will become nauseated, and may start to retch or vomit. In addition there are usually other symptoms including a marked increase in blood pressure and heart rate, sweating, drooling and blotching of the skin. Irritability and a negative personality change also may accompany these symptoms. Episodes can occur as frequently as daily or some patients will never experience a 'crisis.'

The number and severity of symptoms in children are extremely variable. Patients with FD can be expected to function independently if treatment is begun early and major disabilities avoided. Children with FD are usually of normal intelligence. There has been an increased frequency of learning disabilities however. Early intervention and aggressive therapy in areas of language and learning have been extremely successful in prevention and treatment.

View Background Background  |  How is it treated? View How is it treated?

Medical text written January 2002 by Contact a Family. Approved January 2002 by Professor F Axelrod. Last updated September 2006 by Professor F Axelrod, Professor of Dysautonomia Treatment and Research and Professor of Neurology, New York University School of Medicine, New York, USA.

 

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