Neuropathy, hereditary sensory, type II

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Hereditary Sensory Neuropathy Type II

Hereditary Sensory Neuropathy Type II (HSN2) is a rare genetic disorder characterized by a loss of sensation, primarily in the hands and feet. It is a form of peripheral neuropathy that specifically affects the sensory nerves, leading to progressive nerve damage and a variety of symptoms related to sensory function.

Symptoms

The primary symptoms of HSN2 include a reduced ability to feel pain and temperature changes, leading to repeated injuries and wounds that the person may not notice. Over time, this can result in severe complications, such as infections and ulcers. Some individuals may also experience muscle weakness and wasting, particularly in the extremities.

Causes

HSN2 is caused by mutations in specific genes that are inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The genes implicated in HSN2 are involved in the development and function of the sensory neurons.

Diagnosis

Diagnosis of HSN2 typically involves a combination of clinical evaluation, family history, and genetic testing. Nerve conduction studies and electromyography (EMG) may also be used to assess the extent of nerve damage and to differentiate HSN2 from other forms of neuropathy.

Treatment

There is no cure for HSN2, and treatment focuses on managing symptoms and preventing complications. This may include the use of protective footwear to prevent foot injuries, pain management strategies, and physical therapy to maintain muscle strength and mobility. In some cases, surgery may be required to treat injuries or deformities resulting from the neuropathy.

Prognosis

The prognosis for individuals with HSN2 varies depending on the severity of the symptoms and the effectiveness of management strategies. With appropriate care, many individuals can lead active and fulfilling lives.

See also

• Neuropathy
• Hereditary Sensory and Autonomic Neuropathies
• Genetic disorders
• Peripheral neuropathy

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