Childhood Epilepsy
Familial Dysautonomia (Riley-Day syndrome)
Familial Dysautonomia (Riley-Day syndrome)
An Overview
Familial dysautonomia is a type of genetic disorder that affects the survivability of certain nerve cells. It disrupts the cells in the autonomous nervous system that regulates involuntary actions in the body such as breathing, food digestion, body temperature and blood pressure. It also affects the sensory nervous system that control activities related to the senses, which include feeling pain and temperature changes.
Risk Factors
From birth
Mutations in the ELP1 geneSigns & Symptoms
The following are the symptoms to watch for in order to detect the disease early:
Difficulty swallowing and feeding
Low muscle tone (hypotonia)
Absence of tears
Poor control of breathing, especially during sleep
Trouble regulating blood pressure and body temperature
Insensitivity to pain
Unsteady gait
Vomiting episodes
Frequent pneumoniaSymptoms of familial dysautonomia are present at birth. Over time, symptoms tend to get worse. Some people with familial dysautonomia develop curvature of the spine (scoliosis), kidney problems and lung damage. Familial dysautonomia is considered a severe condition, and often results in a shortened lifespan.
Like Two Peas in a Pod, This Screening Goes Well with
Pain Tolerance
