Conditions / Nervous system
hereditary sensory and autonomic neuropathy type 2B
info · Nervous system
A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the RETREG1 gene on chromosome 5p15.
Signs and symptoms
- Acroosteolysis of distal phalanges (feet)
- Hyperactive deep tendon reflexes
- Peripheral axonal neuropathy
- Scissor gait
- Lower limb muscle weakness
- Acral ulceration
- Frequent falls
- Spasticity
- Distal sensory impairment
- Hyporeflexia
Also known as: HSAN2B; hereditary sensory and autonomic neuropathy type IIB