Autosomal recessive axonal neuropathy with neuromyotonia is a rare genetic disorder characterized by progressive muscle weakness and stiffness (neuromyotonia) and nerve damage (axonal neuropathy). It is caused by mutations in the SLC6A8 gene, which is responsible for the production of a protein called creatine transporter. Symptoms typically begin in childhood and may include muscle stiffness, muscle weakness, difficulty walking, and muscle cramps. Other symptoms may include difficulty swallowing, drooling, and facial weakness. Treatment is supportive and may include physical therapy, occupational therapy, and medications to reduce muscle stiffness.