Signs and symptoms
Signs and symptoms of familial dysautonomia usually commence during infancy and worsen with age, and may include: gastrointestinal dysmotility (including erratic gastric emptying, gastroesophageal reflux, abnormal esophageal peristalsis, oropharyngeal incoordination), dysphagia (as poor suckling in infancy) and frequent choking/gagging, recurrent vomiting, poor weight gain/growth, delayed development (especially walking) and puberty (especially in girls), recurrent aspiration pneumonia (due to inhalation of food or vomitus) with possible secondary chronic lung disease, absence of overflow tears during crying, corneal ulcers, red skin blotches and excessive sweating (often during eating or excitement), breath-holding spells, slurred speech/nasal voice, tongue ulcers (from accidental self-injuries), hyporeflexia (variable absence of deep tendon reflexes), hypotonia, enuresis, arrhythmias, hypertension (including episodic hypertension in response to emotional stress or visceral pain), hypotension (including orthostatic hypertension with compensatory tachycardia (invariably present)), impaired (but not absent) temperature and pain perception (leading to frequent accidental injury), impaired proprioception, a smooth glossy tongue, scoliosis (with possibly secondary restrictive lung disease), abnormal gait, short stature, chronic renal failure (common), visual impairment, variable cognitive ability, characteristic facial features that develop with time, impaired vibration perception, lack of fungiform papilla of the tongue, and impaired taste perception (especially for sweetness). Autonomic crises - In children with FD, recurrent episodes of vomiting may occur. Such episodes may be triggered by physical (e.g. infection) or emotional stress, may occur every 15–20 minutes for over 24 hours, and may be accompanied with: significant hypertension, drenching sweat, breathing issues, fever, tachycardia, aspiration pneumonia, skin blotches, drooling, and negative personality change.
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.