HSN2

HSN2 is a gene that is associated with the condition Hereditary Sensory and Autonomic Neuropathy Type II (HSAN II). HSAN II is a rare genetic disorder characterized by a loss of sensation, especially in the extremities, and other neurological abnormalities. The HSN2 gene is believed to play a crucial role in the development and function of the peripheral nervous system.

Function

The HSN2 gene provides instructions for making a protein that is found in the peripheral nervous system. This system includes all the nerves that connect the brain and spinal cord (the central nervous system) to other parts of the body. The HSN2 protein is particularly important in sensory neurons, which transmit information about sensations such as pain, temperature, and touch to the brain.

Role in Disease

Mutations in the HSN2 gene are responsible for causing HSAN II. These mutations lead to the production of an abnormal HSN2 protein that cannot function properly. As a result, sensory neurons may die or work less efficiently, leading to the characteristic features of HSAN II.

Symptoms

The symptoms of HSAN II usually begin in infancy or early childhood. They include a loss of sensation in the hands and feet, muscle weakness, and an inability to sweat. Other symptoms may include self-mutilation due to a lack of pain sensation, and in some cases, intellectual disability.

Diagnosis and Treatment

Diagnosis of HSAN II is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. Genetic testing can confirm a diagnosis. Treatment is symptomatic and supportive, and may include physical therapy, pain management, and regular monitoring for complications.

See Also

• Hereditary Sensory and Autonomic Neuropathy
• Peripheral Nervous System
• Sensory Neurons

References

• Genetics Home Reference. (n.d.). HSN2 gene. Retrieved from https://ghr.nlm.nih.gov/gene/HSN2
• National Organization for Rare Disorders. (n.d.). Hereditary Sensory and Autonomic Neuropathy Type II. Retrieved from https://rarediseases.org/rare-diseases/hereditary-sensory-and-autonomic-neuropathy-type-ii/

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