About Hereditary sensory and autonomic neuropathy type 6

What is Hereditary sensory and autonomic neuropathy type 6?

Hereditary sensory and autonomic neuropathy type 6 (HSAN6) 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 dysfunction, which can lead to problems with sweating, blood pressure, and heart rate. Symptoms usually begin in childhood and worsen over time. There is currently no cure for HSAN6, but treatments can help manage symptoms.

What are the symptoms of Hereditary sensory and autonomic neuropathy type 6?

The symptoms of Hereditary sensory and autonomic neuropathy type 6 (HSAN6) vary from person to person, but may include:

- Loss of sensation in the feet, hands, and other areas of the body
- Loss of reflexes
- Muscle weakness
- Loss of coordination
- Abnormal sweating
- Abnormal blood pressure
- Abnormal heart rate
- Abnormal digestion
- Abnormal bladder and bowel function
- Difficulty speaking
- Difficulty swallowing
- Difficulty breathing
- Seizures
- Vision problems
- Hearing loss
- Dizziness
- Fatigue
- Depression
- Anxiety

What are the causes of Hereditary sensory and autonomic neuropathy type 6?

Hereditary sensory and autonomic neuropathy type 6 (HSAN6) is caused by mutations in the PRDM12 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of nerve cells. Mutations in this gene lead to the death of nerve cells, resulting in the signs and symptoms of HSAN6.

What are the treatments for Hereditary sensory and autonomic neuropathy type 6?

1. Pain management: Pain medications, such as non-steroidal anti-inflammatory drugs (NSAIDs), opioids, and anticonvulsants, can help to reduce pain associated with HSAN6.

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 HSAN6, but it is still in the early stages of development.

What are the risk factors for Hereditary sensory and autonomic neuropathy type 6?

1. Family history of HSAN6
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

Is there a cure/medications for Hereditary sensory and autonomic neuropathy type 6?

There is no known cure for Hereditary Sensory and Autonomic Neuropathy type 6 (HSAN6). 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 improve mobility and strength.