Signs And Symptoms


Signs and symptoms: The first clinical sign of familial dysautonomia (FD) is usually poor feeding with choking or coughing. Most infants have problems coordinating sucking and swallowing and suffer from aspiration pneumonias (lung infections). Feeding difficulties usually continue throughout the first year into childhood and, in some cases, into adulthood. Poor muscle tone and impaired temperature regulation are also common in infants with FD. The lack of overflow tears with emotional crying after the age of 7 months is another distinctive clinical feature. As the children age, milestones such as walking and speech are often delayed because of poor motor coordination. Indifference to pain and temperature increase the risk of injuries, which often go unnoticed by the patient. Corneal insensitivity and inadequate eye moisture often result in poorly healing corneal abrasions. Breath-holding episodes occur. Vomiting crises accompanied by hypertension, tachycardia, profuse sweating, and skin blotching brought on by emotional stress or infection are cardinal features of FD and are frequently associated with changes in mood. Anxiety and learning difficulties are common in school-aged children. Short stature, abnormal spinal curvature, problems with bone health, and physical incoordination are common in adolescents. Orthostatic hypotension also occurs. Renal failure, respiratory failure, sleep apnea, optic atrophy, and worsening gait can develop in adult years. Children may not have all of the signs and symptoms.