Familial Dysautonomia.docx

Familial dysautonomia Is a disorder of the autonomic nervous system which affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system resulting in variable symptoms, including insensitivity to pain, inability to produce tears, poor growth, and labile blood pressure.

Signs and symptoms The most distinctive clinical feature is the absence of overflow tears with emotional crying after age 7 months.There is also a high prevalence of breech presentation. Other symptoms include weak or absent suck and poor tone, poor suck and misdirected swallowing, and red blotching of skin.

Symptoms Delayed speech and walking Unsteady gait Spinal curvature Corneal abrasion Less perception in pain or temperature with nervous system. Poor growth

Cause Familial dysautonomia is the result of mutations in IKBKAP gene on chromosome 9, which encodes for the IKAP protein