About Familial Dysautonomia: Symptoms

Familial Dysautonomia affects the autonomic nervous system, the part of the nervous system that controls the “auto-pilot” functions of breathing, swallowing, heart rate changes, blood pressure, and temperature regulation. In other words, the part of the nervous system that manages all the essential functions so that you don’t have to think about doing them. It also affects the sensory nervous system, the part of the nervous system that you use to feel pain and temperature. In addition to the main symptoms that make the criteria for the diagnosis, there are many other symptoms that have been seen with familial dysautonomia. Most of these are complications of the effect on the nervous system. The following is a list of possible symptoms; no patient will have all of these symptoms and many will experience only a few at a given time.
Eyes:
lack of overflow tears (dry eyes)
corneal wounds (with poor healing)
optic atrophy
strabismus

Mouth:
lack of fungiform papilla on the tongue
small jaw size with overcrowding of teeth
early tooth loss

Gastrointestinal:
uncoordinated suck and swallow
episodes of cyclic vomiting
reflux (heartburn)
motility problems (constipation, dumping syndrome)

Heart:
episodes of erratic fast heart rate and high blood pressure
low blood pressure (hypotension)
dysrhythmias

Lungs:
Recurrent pneumonias due to aspiration
Inability to tolerate lower oxygen levels

Kidney:
dehydration with elevated blood urea nitrogen (BUN)
poor kidney blood flow
salt wasting
renal insufficiency or failure

Nervous system:
autonomic dysfunction
decreased ability to feel pain or temperature
hypotonia
decreased deep tendon reflexes
ataxia and apraxia
“dysautonomic crisis” (episodes of erratic blood pressure, heart rate, cyclical vomiting, gaseousness, temperature instability, excessive sweating and salivation, anorexia, and apparent discomfort)
seizures (due to breath-holding, febrile, and seizure disorders)
dizziness, passing out

Orthopedics:
scoliosis
kyphosis
exaggerated lordosis
neuropathic joints
inability to feel fractures
Skin:

poor wound healing
blotching with eating, excitement, or sleeping
excessive sweating (especially on the head)

Psychiatric:
poor attention span
anxiety
depression
auditory processing problems
self-mutilation
separation anxiety

Obstetrical:
breech presentation at birth
low birth weight
variable and late decelerations during labor
temperature instability in the newborn period

Development:
delayed puberty
delayed gross motor and speech development

Lab Findings:
elevated BUN
elevated DOPA:DHPG ratio
anemia
IKBKAP gene mutation
decreased amounts of normal IKAP protein

Miscellaneous:
breath-holding (at end of expiration, person arches and stiffens, eyes roll back in the head, often can turn blue especially around the lips, passes out)
poor weight gain
small stature