A hereditary condition that impacts nerve function across various regions of the body, potentially manifesting as early as infancy.
Kids with Riley-Day syndrome frequently exhibit reduced pain sensitivity, which can lead them to overlook injuries. Swallowing difficulties are prevalent, and this can cause infants to inhale food into their airways, potentially leading to pneumonia. Vomiting is another common symptom. Additionally, these children may experience tear deficiency, excessive sweating, impaired coordination, speech issues, and an unstable walk. The onset of puberty may also be delayed.
Genetic tests can be conducted to identify the particular gene mutation involved. Additional tests may be carried out based on the symptoms present. For instance, if the child is sick and coughing, a chest X-ray might be scheduled, which could reveal signs of pneumonia.
Treatment focuses on addressing individual issues as they occur, like administering antibiotics for pneumonia.