Hereditary sensory and autonomic neuropathy type 5 (HSAN5) 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. HSAN5 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.

The symptoms of Hereditary sensory and autonomic neuropathy type 5 (HSAN5) vary from person to person, but may include:

- Loss of sensation in the feet and hands
- Loss of reflexes in the feet and hands
- Loss of sensation in the face
- Loss of sensation in the trunk
- Loss of sensation in the legs
- Loss of sensation in the arms
- Loss of balance and coordination
- Muscle weakness
- Difficulty walking
- Abnormal sweating
- Abnormal pupil size
- Abnormal blood pressure
- Abnormal heart rate
- Abnormal digestion
- Abnormal bladder and bowel function
- Abnormal temperature regulation
- Abnormal sensitivity to Pain and temperature

Hereditary sensory and autonomic neuropathy type 5 (HSAN5) 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 HSAN5.

1. Pain management: Pain medications, such as non-steroidal anti-inflammatory drugs (NSAIDs), opioids, and anticonvulsants, can help to reduce pain associated with HSAN5.

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 recommended in some cases to correct deformities or to improve mobility.

6. Gene therapy: Gene therapy is a promising treatment option for HSAN5, but it is still in the early stages of development.

1. Family history of HSAN5
2. Mutations in the NTRK1 gene
3. Age of onset (usually before age 10)
4. Symptoms of sensory loss, such as numbness, tingling, and burning sensations
5. Symptoms of autonomic dysfunction, such as difficulty regulating body temperature, blood pressure, and heart rate
6. Muscle weakness and wasting
7. Difficulty walking
8. Loss of reflexes
9. Abnormal gait
10. Difficulty with coordination and balance
11. Difficulty with fine motor skills
12. Difficulty with speech and swallowing
13. Vision problems
14. Hearing loss
15. Gastrointestinal problems
16. Urinary incontinence

There is no cure for Hereditary sensory and autonomic neuropathy type 5 (HSAN5). Treatment focuses on managing symptoms and preventing complications. Medications may be prescribed to help manage pain, reduce inflammation, and improve nerve function. Physical therapy and occupational therapy may also be recommended to help maintain muscle strength and improve coordination.