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.  For more information see Online Mandolin Inheritance in Man (OMIM) entry 223900.

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
  

For additional information, click here to link to the Dysautonomia Treatment and Evaluation Center

Bibliography:

1.    Sarwark JF and Kramer 
   A Pediatric Spinal Deformity.
   Curr Opin Ped 1998 Feb;10(1):82-6.

2.    Groom, et al. 
   Optic Neuropathy in familial dysautonomia.
   J Neurophthalm 1997 Jun;17(2):101-2. 

3.  Axelrod, et al. 
   Electrocardiographic measures and heart rate variability in patients with familial dysautonomia. 
   Cardiology 1997 Mar-Apr;88(2):133-40.

4.    Axelrod FB 
   Familial dysautonomia: a 47-year perspective. How technology confirms clinical acumen. 
   J Pediatr 1998 Mar;132(3 Pt 2):S2-5.

5.    Mass, et al. 
   A cephalometric evaluation of craniofacial morphology in familial dysautonomia.
   Cleft Palat Craniofac J 1998 Mar;35(2):120-6.

6.    Kaplan, et al. 
   Aspects of spinal deformity in familial dysautonomia (Riley-Day syndrome).
   Eur Spine J 1997;6(1):33-8.

7.    Axelrod FB 
   Familial Dysautonomia, 
   Manual of Comprehensive Care. 1997, Dysautonomia Foundation, Inc: New York.

8.    Szold, et al.
     Laparoscopic-modified Nissen fundoplication in children with familial dysautonomia. 
   J Pediatr Surg 1996 Nov;31(11):1560-2.

9.    Mass E and Gadoth N 
   Oro-dental self-mutilation in familial dysautonomia.
     J Oral Path Med 1994 Jul;23(6):273-6.

10.    Axelrod, et al
    The effects of postural change and exercise on renal haemodynamics in familial dysautonomia. 
    Clin Auton Res 1993 Jun;3(3):195-200.

11.    Leiberman, et al 
    Cesarean section by local anesthesia in patients with familial dysautonomia. 
    Am J Obstet Gynecol 1991 Jul;165(1):110-1.

12.    Guidera, et al 
    Orthopaedic manifestations in congenitally insensate patients. 
    J Ped Orthoped 1990 Jul-Aug;10(4):514-21.

13.    Okada F 
    Psychiatric aspects of acute pandysautonomia.
    Eur Arch Psychiatry Clin Neurosci 1990;240(2):134-5.

14.     Axelrod, et al 
    Neonatal recognition of familial dysautonomia. 
    J Pediatr 1987 Jun;110(6):946-8.

15.    Gwathmey, et al.
    Clinical manifestations of congenital insensitivity of the hand and classification of syndromes. 
    J Hand Surg (Am) 1984 Nov;9(6):863-9.

16.    Gadoth, et al.
    Sleep structure and nocturnal disordered breathing in familial dysautonomia. 
    J Neurol Sci 1983 Jul;60(1):117-25.

17.    Ganz, et al. 
    Physical therapy management of familial dysautonomia. 
    Phys Ther 1983 Jul;63(7):1121-4.

18.    Gadoth, et al.
    Presence of fungiform papillae in classic dysautonomia. 
    J Hopkins Med J 1982 Dec;151(6):298-301.

19.    Clayson, et al 
    Personality development and familial dysautonomia.
    Pediatrics 1980 Feb;65(2):269-74.

20.    Welton, et al.
    Intellectual development and familial dysautonomia. 
    Pediatrics 1979 May;63(5):708-12.

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