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.
Informing patients and caretakers has resulted in decreased corneal scarring and need for more aggressive surgical measures such as tarsorrhaphy, conjunctival flaps, and corneal transplants. Prognosis
Average age of death is in the 3rd decade of life, however, affected persons may live into the 7th decade of life. Death occurs in 50% of the affected individuals by age 30. The outlook for patients with FD depends on the particular diagnostic category. Patients with chronic, progressive, generalized dysautonomia in the setting of central nervous system degeneration have a generally poor long-term prognosis. Death can occur from pneumonia, acute respiratory failure, or sudden cardiopulmonary arrest in such patients.The survival rate and quality of life have increased since the mid-1980s mostly due to a greater understanding of the most dangerous symptoms. At present, FD patients can be expected to function independently if treatment is begun early and if major disabilities are avoided. Epidemiology
Familial dysautonomia is seen almost exclusively in Ashkenazi Jews and is inherited in an autosomal recessive fashion. Both parents must be carriers in order for a child to be affected. The carrier frequency in Jews of Eastern and Central European (Ashkenazi) ancestry is about 1/30, while the carrier frequency in non-Jews is unknown. If both parents are carriers, there is a one in four, or 25%, chance with each pregnancy for an affected child.