INFORMATION ON RILEY-DAY SYNDROME

Riley-Day syndrome is an inherited disorder that affects nerve function throughout the body. Symptoms are present at birth and grow worse over time
It is seen most often in people of Eastern European Jewish ancestry, where the incidence is 1 in 3,700. The disease is caused by mutation of the IKBKAP gene on chromosome 9. It is rare in the general population.

SYNONYMS OF RILEY-DAY SYNDROME

1. Congenital Sensory Neuropathy
2. Hereditary Sensory and Autonomic Neuropathy
3. Hereditary Sensory Radicular Neuropathy
4. Neuropathy, Progressive Sensory, of Children
5. Sensory Radicular Neuropathy, Recessive
6. Acroosteolysis, Neurogenic
7. Acroosteolysis, Giaccai Type
8. Morvan Diseases
9. Autonomic Dysfunction
10. Familial Dysautonomia
11. Riley-Day Syndrome

CAUSES OF RILEY-DAY SYNDROME

The causes of riley-day syndrome:

1. Riley-Day syndrome is inherited as an autosomal recessive trait.
2. The disease is caused by mutation of the IKBKAP gene on chromosome 9.

SYMPTOMS OF RILEY-DAY SYNDROME

Some symptoms are:

1. Ashkenazi Jewish heritage
2. Feeding difficulties -- poor sucking and poor ability to swallow, drooling
3. Breath holding, sweating while eating, protracted episodes of vomiting
4. Lack of response to painful stimuli seizures, hypotonia, and low muscle tone
5. Abnormal body temperatures, abnormally high blood pressure occurs intermittently in coordination, unsteady gait.
6. An unusually smooth tongue surface severe scoliosis.

DIAGNOSIS OF RILEY-DAY SYNDROME

With advances in diagnosis and treatment, survival continues to improve. Currently, a newborn with Riley-Day has a 50% chance of reaching age 30.

TREATMENT OF RILEY-DAY SYNDROME

Protection from injury is critical. Problems are treated as they occur, including treatment of aspiration pneumonia, anticonvulsant therapy if seizures are present, and liquid tears and bethanechol to prevent drying of eyes.

1. Protection from injury
2. Treatment of aspiration pneumonia
3. Anticonvulsant therapies if seizures are present
4. Liquid tears and bethanechol to prevent drying of eyes
5. Anti-emetics may be used to control vomiting
6. Postural hypotension (low blood pressure when standing) can be managed with increased fluid and salt intake, caffeine, and waist-high elastic stockings
7. An annual spine exam is needed to monitor for scoliosis, which can be treated with braces or surgery.
8. Anti-emetics may be used to control vomiting. Postural hypotension can be managed with increased fluid and salt intake, caffeine, and waist-high elastic stockings.