familial dysautonomia

A hereditary sensory and autonomic neuropathy characterized by progressive degeneration of sensory and autonomic neurons with congenital or neonatal onset resulting in impaired pain and temperature perception and profound dysautonomia that has_material_basis_i

A hereditary sensory and autonomic neuropathy characterized by progressive degeneration of sensory and autonomic neurons with congenital or neonatal onset resulting in impaired pain and temperature perception and profound dysautonomia that has_material_basis_in homozygous or compound heterozygous mutation in the ELP1 gene on chromosome 9q31. Common signs and symptoms include gastrointestinal dysfunction with vomiting crises, recurrent aspiration pneumonia, altered sensitivity to pain and temperature, extreme blood pressure variability with postural hypotension, hypotonia, decreased or absent deep tendon reflexes, decreased taste and absence of fungiform papillae of the tongue, alacrima, and early or sudden death.

Signs and symptoms

• Orthostatic hypotension
• Corneal ulceration
• Pupillary hypersensitivity to parasympathomimetic agents
• Hypotonia
• Gastroesophageal reflux
• Generalized hypotonia
• Abnormal renal physiology
• Emotional lability
• Feeding difficulties in infancy
• Tachycardia

Also known as: HSAN III; HSAN3; Riley-Day syndrome; hereditary sensory and autonomic neuropathy type 3; hereditary sensory and autonomic neuropathy type III