autosomal recessive congenital indifference to pain

A neuropathy characterized by complete absence of pain perception with no impairment of other sensory, motor, or autonomic modalities that has_material_basis_in homozygous or compound heterozygous loss-of-function mutation in the SCN9A gene on chromosome 2q24.

A neuropathy characterized by complete absence of pain perception with no impairment of other sensory, motor, or autonomic modalities that has_material_basis_in homozygous or compound heterozygous loss-of-function mutation in the SCN9A gene on chromosome 2q24. Hyposmia or anosmia is also common.

Signs and symptoms

• Pain insensitivity
• Painless fractures due to injury
• Anhidrosis
• Urinary incontinence
• Anosmia
• Hyposmia
• Hypohidrosis
• Hyporeflexia
• Paresthesia
• Impaired temperature sensation

Also known as: channelopathy-associated insensitivity to pain