Symptoms:

• Breath holding spells (can lose consciousness)
• Constipation
• Decreased taste
• Diarrhea
• Dry eyes
• Feeding difficulties
• Inability to feel pain and changes in temperature (can lead to injuries)
• Long episodes of vomiting
• Poor coordination - unsteady walk
• Poor growth
• Repeated fevers
• Repeated pneumonia
• Seizures
• Skin blotching
• Sweating while eating
• Unusually smooth, pale tongue surface

Symptoms are present at birth and grow worse over time.

Signs and tests:

The health care provider will perform a physical exam. The patient may have:

• Absent or decreased deep tendon reflexes
• Lack of a response after receiving a histamine injection (normally redness and swelling would occur)
• Lack of tears with emotional crying
• Low muscle tone (hypotonia), especially in babies
• Repeated episodes of high blood pressure
• Severe scoliosis
• Tiny pupils after receiving certain eye drops

Blood tests are available to check for the IKBKAP gene. The detection rate in the Ashkenazi Jewish population is greater than 99%.