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.

The symptoms of Autosomal recessive axonal neuropathy with neuromyotonia can vary from person to person, but may include:

- Muscle Stiffness and spasms
- Muscle weakness
- Loss of muscle tone
- Difficulty walking
- Abnormal gait
- Difficulty with fine motor skills
- Muscle cramps
- Pain in the arms and legs
- Fatigue
- Difficulty swallowing
- Speech difficulties
- Difficulty breathing
- Abnormal reflexes
- Abnormal sensations in the skin

The exact cause of Autosomal recessive axonal neuropathy with neuromyotonia is unknown. However, it is believed to be caused by mutations in the SLC6A8 gene, which is responsible for the production of a protein called creatine transporter. Mutations in this gene can lead to a deficiency of creatine in the body, which can cause the symptoms associated with this condition. Other possible causes include mutations in the GARS gene, which is responsible for the production of an enzyme called glycine-tRNA synthetase, and mutations in the SLC25A12 gene, which is responsible for the production of a protein called citrin.

1. Physical therapy: Physical therapy can help to improve muscle strength, flexibility, and coordination.

2. Occupational therapy: Occupational therapy can help to improve daily living skills and activities.

3. Medications: Medications such as anticonvulsants, muscle relaxants, and immunosuppressants may be prescribed to help reduce symptoms.

4. Surgery: Surgery may be recommended to help improve muscle strength and coordination.

5. Alternative therapies: Alternative therapies such as acupuncture, massage, and yoga may be beneficial in reducing symptoms.

1. Genetic mutations in the SLC32A1 gene
2. Family history of the disorder
3. Exposure to certain environmental toxins
4. Certain medications
5. Vitamin B12 deficiency
6. Vitamin E deficiency
7. Immune system disorders
8. Infections

At this time, there is no known cure for autosomal recessive axonal neuropathy with neuromyotonia. However, there are medications that can help manage the symptoms. These include anticonvulsants, muscle relaxants, and medications to reduce spasticity. Physical therapy and occupational therapy can also help improve mobility and reduce pain.