About Hereditary sensory and autonomic neuropathy type 1

What is Hereditary sensory and autonomic neuropathy type 1?

Hereditary sensory and autonomic neuropathy type 1 (HSAN1) 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. HSAN1 is caused by mutations in the SPTLC1 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 1?

The symptoms of Hereditary sensory and autonomic neuropathy type 1 (HSAN1) 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
- Abnormal temperature regulation
- Abnormal sensitivity to pain
- Abnormal sensitivity to touch
- Abnormal sensitivity to temperature
- Abnormal sensitivity to vibration
- Abnormal sensitivity to pressure
- Abnormal sensitivity to light
- Abnormal sensitivity to sound
- Abnormal sensitivity to taste and smell
- Abnormal balance and coordination
- Abnormal gait
- Abnormal posture
- Abnormal eye movements
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What are the causes of Hereditary sensory and autonomic neuropathy type 1?

Hereditary sensory and autonomic neuropathy type 1 (HSAN1) 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, and mutations in the NTRK1 gene can lead to the death of these cells. This can cause a wide range of symptoms, including decreased sensation in the hands and feet, muscle weakness, and problems with the autonomic nervous system, which controls involuntary body functions such as digestion, heart rate, and blood pressure.

What are the treatments for Hereditary sensory and autonomic neuropathy type 1?

1. Pain management: Pain medications, such as non-steroidal anti-inflammatory drugs (NSAIDs), opioids, and anticonvulsants, can help manage the pain associated with HSAN1.

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

3. Occupational therapy: Occupational therapy can help with activities of daily living, such as dressing, bathing, and eating.

4. Assistive devices: Assistive devices, such as canes, walkers, and wheelchairs, can help with mobility.

5. Surgery: Surgery may be necessary to correct deformities or to repair damaged nerves.

6. Gene therapy: Gene therapy is a promising new treatment for HSAN1. It involves introducing a healthy gene into the body to replace the defective gene that causes the

What are the risk factors for Hereditary sensory and autonomic neuropathy type 1?

1. Family history of Hereditary sensory and autonomic neuropathy type 1
2. Mutations in the SPTLC1 gene
3. Mutations in the SPTLC2 gene
4. Mutations in the HSN1 gene
5. Mutations in the HSN2 gene
6. Mutations in the HSN3 gene
7. Mutations in the HSN4 gene
8. Mutations in the HSN5 gene
9. Mutations in the HSN6 gene
10. Mutations in the HSN7 gene
11. Mutations in the HSN8 gene
12. Mutations in the HSN9 gene
13. Mutations in the HSN10 gene
14. Mutations in the HSN11 gene
15. Mutations in the HSN12 gene
16.

Is there a cure/medications for Hereditary sensory and autonomic neuropathy type 1?

There is no cure for Hereditary sensory and autonomic neuropathy type 1 (HSAN1). Treatment focuses on managing symptoms and preventing complications. Medications may be prescribed to help manage pain, reduce inflammation, and prevent infection. Physical therapy and occupational therapy may also be recommended to help maintain muscle strength and joint mobility.