Hereditary neuralgic amyotrophy

Hereditary Neuralgic Amyotrophy (HNA) is a rare genetic disorder characterized by recurrent episodes of severe pain in the shoulder and arm. This condition is also known as Hereditary Brachial Plexus Neuropathy.

Symptoms

The primary symptom of HNA is severe, sudden-onset pain in the shoulder and arm. This is often followed by muscle weakness and atrophy. The severity and duration of symptoms can vary widely, even among members of the same family. Some individuals may experience additional symptoms, such as facial paresis, hearing loss, and vascular headaches.

Causes

HNA is caused by mutations in the SEPT9 gene. This gene provides instructions for making a protein that is involved in the formation of septin filaments, which are part of the cytoskeleton. The SEPT9 protein is found in many types of cells throughout the body, including nerve cells.

Diagnosis

Diagnosis of HNA is based on the characteristic symptoms, a family history of the condition, and genetic testing. The genetic test involves sequencing the SEPT9 gene to look for mutations.

Treatment

There is currently no cure for HNA. Treatment is focused on managing symptoms and may include pain management, physical therapy, and occupational therapy. In some cases, surgery may be recommended to improve function.

Prognosis

The prognosis for individuals with HNA varies. Some people may have only one episode and recover completely, while others may have recurrent episodes and develop permanent muscle weakness and atrophy.

See also

• Neuralgia
• Amyotrophy
• SEPT9
• Genetic disorder
• Mutation

References

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