Conditions / Nervous system
hereditary sensory and autonomic neuropathy type 8
info · Nervous system
A hereditary sensory and autonomic neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34.
Signs and symptoms
- Impaired temperature sensation
- Pain insensitivity
- Recurrent skin infections
- Corneal scarring
- Corneal ulceration
- Decreased lacrimation
- Hypohidrosis
- Hypoesthesia
- Hyporeflexia
- Impaired vibratory sensation
Also known as: HSAN8; hereditary sensory and autonomic neuropathy type VIII