About Hereditary sensory and autonomic neuropathy type 2

What is Hereditary sensory and autonomic neuropathy type 2?

Hereditary sensory and autonomic neuropathy type 2 (HSAN2) 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 problems with sweating, temperature regulation, and bladder and bowel control. HSAN2 is caused by mutations in the NTRK1 gene and is inherited in an autosomal dominant manner. Treatment is supportive and may include physical therapy, medications, and lifestyle modifications.

What are the symptoms of Hereditary sensory and autonomic neuropathy type 2?

The symptoms of Hereditary sensory and autonomic neuropathy type 2 (HSAN2) 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 control
- Difficulty walking
- Painful sensations in the hands and feet
- Loss of sensation in the face
- Difficulty speaking
- Difficulty swallowing
- Vision problems
- Hearing loss

What are the causes of Hereditary sensory and autonomic neuropathy type 2?

Hereditary sensory and autonomic neuropathy type 2 (HSAN2) is caused by mutations in the NTRK1 gene. This gene provides instructions for making a protein called neurotrophic tyrosine kinase receptor type 1 (TrkA). This protein is involved in the development and maintenance of nerve cells (neurons) in the peripheral nervous system, which is made up of all the nerves that connect the brain and spinal cord to the rest of the body. Mutations in the NTRK1 gene lead to a decrease in the amount of TrkA protein, which disrupts the development and maintenance of peripheral neurons. This can lead to the signs and symptoms of HSAN2.

What are the treatments for Hereditary sensory and autonomic neuropathy type 2?

1. Pain management: Pain medications, such as non-steroidal anti-inflammatory drugs (NSAIDs), opioids, and anticonvulsants, can help to reduce pain associated with HSAN2.

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. Assistive devices: Assistive devices, such as braces, canes, and walkers, can help to improve mobility.

5. Surgery: Surgery may be necessary to correct deformities or to improve function.

6. Gene therapy: Gene therapy is a promising treatment option for HSAN2, but it is still in the early stages of development.

What are the risk factors for Hereditary sensory and autonomic neuropathy type 2?

1. Family history of Hereditary sensory and autonomic neuropathy type 2
2. Age (most commonly affects children and young adults)
3. Genetic mutations in the SPTLC1 gene
4. Exposure to certain toxins or medications
5. Vitamin B12 deficiency
6. Diabetes
7. Alcoholism
8. Autoimmune diseases

Is there a cure/medications for Hereditary sensory and autonomic neuropathy type 2?

There is no cure for Hereditary sensory and autonomic neuropathy type 2 (HSAN2). Treatment focuses on managing symptoms and preventing complications. Medications may be prescribed to help manage pain, reduce inflammation, and improve nerve function. Physical therapy, occupational therapy, and other supportive treatments may also be recommended.