hereditary sensory and autonomic neuropathy type 1C

A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.

Signs and symptoms

• Impaired vibration sensation in the lower limbs
• Decreased motor nerve conduction velocity
• Distal upper limb muscle weakness
• Distal lower limb muscle weakness
• Sensorimotor neuropathy
• Upper limb hyperreflexia
• Distal sensory impairment
• Impaired pain sensation
• Hyporeflexia of lower limbs
• Distal muscle weakness

Also known as: HSAN1C; HSN1C; hereditary sensory and autonomic neuropathy type IC; hereditary sensory neuropathy type 1C; hereditary sensory neuropathy type IC