Management
There is currently no cure for FD. There are only two treatment centers, one at New York University Hospital and one at the Sheba Medical Center in Israel. One is being planned for the San Francisco area. Although the FD-causing gene has been identified and it seems to have tissue specific expression, there is no definitive treatment at present.A major issue has been aspiration pneumonia. Fundoplications (by preventing regurgitation) and gastrostomy tubes (to provide non-oral nutrition) have reduced the frequency of hospitalization. Other issues which can be treated include FD crises, scoliosis, and various eye conditions due to limited or no tears.Treatment of FD remains preventative, symptomatic and supportive. FD does not express itself in a consistent manner. The type and severity of symptoms displayed vary among patients and even at different ages on the same patients so patients should have specialized individual treatment plans. Medications are used to control vomiting, eye dryness, and abnormal blood pressure. Common management strategies include: artificial tears, appropriate feeding strategy (maintenance of adequate nutrition, avoidance of aspiration (thickened formula and different shaped nipples for infants)), daily chest physiotherapy (nebulization, bronchodilators, and postural drainage) for chronic pulmonary disease, pharmaceutical management of autonomic features (e.g. intravenous or rectal diazepam, or rectal chloral hydrate), preventing accidental injury, prevention of orthostatic hypotension (hydration, leg exercise, frequent small meals, a high-salt diet, and medication (e.g. with fludrocortisone)), treatment of orthopedic problems, compensating labile blood pressure.Parents and patients should be informed regarding daily eye care and early signs of corneal problems, as well as punctal cautery.
Pain insensitivity - Insensitivity or indifference to painful stimuli may lead to frequent/progressive self-mutilation, burns, and ulcers. There may be self-mutilation of the tongue (especially in toddlers during teething), lips, and cheeks, or loss of teeth. Compulsive oral biting may result in ulcers, or tumour-like masses (Riga-Fede disease). Progression
Familial dysautonomia presents with progressive age-specific symptoms. Though usually not diagnosed until several years of age, generalised signs of FD are present in during the newborn period >80% of those affected.Dysmorpnic facial features are not directly inherent to the disorder, however, facial asymmetry and a straightened mouth eventually develop due to abnormal tone and molding of facial bones. Perinatal
A very high incidence of breech presentation has been noted among infants with FD. A lower birth weight as compared to siblings, premature birth, and intrauterine growth restriction have also been noted. Neonatal
During the neonatal period, there may be hypotonia, respiratory insufficiency, poor feeding with difficulty swallowing and aspiration, developmental delay, short stature, scoliosis, and corneal disease. Infancy
Issues related to the disorder first appear during infancy. Early manifestations include hypotonia, feeding difficulty (impaired swallowing and suckling), poor growth, absence of tears, frequent lung infections, and poor body temperature control (infants may display cold hands and feet). Developmental milestones (e.g.