hereditary sensory neuropathy type 2C

A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37.

Signs and symptoms

• Distal lower limb muscle weakness
• Acral ulceration
• Foot dorsiflexor weakness
• Autoamputation of digits
• Impaired distal proprioception
• Impaired distal vibration sensation
• Areflexia of lower limbs
• Hyporeflexia
• Peripheral neuropathy
• Hypoesthesia

Also known as: HSAN2C; HSN2C; hereditary sensory and autonomic neuropathy type 2C; hereditary sensory and autonomic neuropathy type IIC; hereditary sensory neuropathy type IIC