Familial dysautonomia
ORPHA:1764· ICD-10 G90.1
Definition
A rare hereditary sensory and autonomic neuropathy characterized by decreased pain and temperature perception, absent deep tendon reflexes, proprioceptive ataxia, afferent baroreflex failure and progressive optic neuropathy.
- Prevalence
- 1-5 / 10 000
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal