About Hereditary Sensory and Autonomic Neuropathy Type 1E

What is Hereditary Sensory and Autonomic Neuropathy Type 1E?

Hereditary Sensory and Autonomic Neuropathy Type 1E (HSAN1E) 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, temperature regulation, and digestion. Other symptoms may include muscle weakness, joint pain, and difficulty walking. HSAN1E is caused by mutations in the NTRK1 gene and is inherited in an autosomal dominant pattern. Treatment is supportive and may include physical therapy, medications, and lifestyle modifications.

What are the symptoms of Hereditary Sensory and Autonomic Neuropathy Type 1E?

The symptoms of Hereditary Sensory and Autonomic Neuropathy Type 1E 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
- Difficulty speaking
- Difficulty swallowing
- Vision problems
- Hearing loss
- Seizures
- Cognitive impairment

What are the causes of Hereditary Sensory and Autonomic Neuropathy Type 1E?

Hereditary Sensory and Autonomic Neuropathy Type 1E (HSAN1E) 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 sensory loss, autonomic dysfunction, and muscle weakness.

What are the treatments for Hereditary Sensory and Autonomic Neuropathy Type 1E?

1. Pain management: Pain management is an important part of treating HSAN1E. This may include medications such as non-steroidal anti-inflammatory drugs (NSAIDs), opioids, anticonvulsants, and tricyclic antidepressants.

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 braces, canes, and walkers, can help with mobility.

5. Surgery: Surgery may be necessary to correct deformities or to relieve pressure on nerves.

6. Gene therapy: Gene therapy is a promising new treatment for HSAN1E. It involves introducing a healthy gene into

What are the risk factors for Hereditary Sensory and Autonomic Neuropathy Type 1E?

1. Family history of Hereditary Sensory and Autonomic Neuropathy Type 1E
2. Genetic mutation in the SPTLC1 gene
3. Age of onset before 10 years old
4. Progressive sensory and autonomic nerve damage
5. Symptoms of pain, numbness, and tingling in the hands and feet
6. Loss of reflexes
7. Difficulty with balance and coordination
8. Abnormal sweating
9. Gastrointestinal problems
10. Urinary incontinence

Is there a cure/medications for Hereditary Sensory and Autonomic Neuropathy Type 1E?

There is no cure for Hereditary Sensory and Autonomic Neuropathy Type 1E, but medications can be used to help manage the symptoms. These medications may include anticonvulsants, antidepressants, and pain relievers. Physical therapy and occupational therapy may also be recommended to help manage the symptoms.