About Hereditary Sensory and Autonomic Neuropathy Type II

What is Hereditary Sensory and Autonomic Neuropathy Type II?

Hereditary Sensory and Autonomic Neuropathy Type II (HSAN II) is a rare inherited disorder that affects the peripheral nervous system. It is characterized by the progressive loss of sensation in the hands and feet, as well as autonomic nervous system dysfunction. Symptoms may include numbness, tingling, burning, and pain in the hands and feet, as well as difficulty regulating body temperature, blood pressure, and heart rate. HSAN II is caused by mutations in the SPTLC1 gene and is inherited in an autosomal dominant manner.

What are the symptoms of Hereditary Sensory and Autonomic Neuropathy Type II?

Symptoms of Hereditary Sensory and Autonomic Neuropathy Type II (HSAN2) can vary from person to person, but may include:

- Loss of sensation in the hands and feet

- Loss of reflexes
- Muscle weakness
- Loss of coordination
- Abnormal sweating
- Abnormal blood pressure
- Abnormal heart rate
- Abnormal digestion
- Abnormal bladder and bowel function
- Abnormal temperature regulation
- Abnormal sexual function
- Abnormal vision
- Abnormal hearing
- Abnormal balance
- Abnormal taste and smell
- Abnormal sleep patterns
- Anxiety and depression

What are the causes of Hereditary Sensory and Autonomic Neuropathy Type II?

Hereditary Sensory and Autonomic Neuropathy Type II (HSAN2) is caused by mutations in the SPTLC1 gene. This gene provides instructions for making an enzyme called serine palmitoyltransferase (SPT). This enzyme is involved in the production of a type of fat molecule called sphingolipids, which are important for the structure and function of nerve cells. Mutations in the SPTLC1 gene reduce the activity of SPT, leading to a decrease in sphingolipid production and a disruption of nerve cell structure and function. This disruption can cause the signs and symptoms of HSAN2.

What are the treatments for Hereditary Sensory and Autonomic Neuropathy Type II?

1. Pain management: Pain medications, such as non-steroidal anti-inflammatory drugs (NSAIDs), opioids, and anticonvulsants, can help to reduce the pain associated with HSAN II.

2. Physical therapy: Physical therapy can help to improve strength, balance, and coordination.

3. Occupational therapy: Occupational therapy can help to improve daily functioning and activities of daily living.

4. Surgery: Surgery may be recommended to correct deformities or to improve function.

5. Gene therapy: Gene therapy is a promising new treatment option for HSAN II. It involves introducing a healthy gene into the body to replace the defective gene that causes the disorder.

6. Stem cell therapy: Stem cell therapy is another promising new treatment option for HSAN II. It involves introducing healthy stem cells

What are the risk factors for Hereditary Sensory and Autonomic Neuropathy Type II?

1. Family history of Hereditary Sensory and Autonomic Neuropathy Type II
2. Genetic mutations in the SPTLC1 gene
3. Advanced age
4. Exposure to toxins or certain medications
5. Vitamin B12 deficiency
6. Diabetes
7. Alcoholism
8. Autoimmune diseases

Is there a cure/medications for Hereditary Sensory and Autonomic Neuropathy Type II?

There is no cure for Hereditary Sensory and Autonomic Neuropathy Type II, but medications can be used to help manage symptoms. These medications may include anticonvulsants, antidepressants, and pain relievers. Physical therapy and lifestyle changes may also be recommended to help manage symptoms.