Naxos disease is a rare genetic disorder that affects the skin, heart, and skeletal muscles. It is caused by a mutation in the plakoglobin gene, which is responsible for the formation of desmosomes, which are structures that help hold cells together. Symptoms of Naxos disease include thickening of the skin on the palms and soles of the feet, heart arrhythmias, and muscle weakness.

The symptoms of Naxos disease include:

-Cardiomyopathy (enlargement of the heart)
-Arrhythmias (irregular heartbeats)
-Heart failure
-Palmoplantar keratoderma (thickening of the skin on the palms and soles of the feet)
-Woolly hair
-Nail dystrophy (thickening and discoloration of the nails)
-Corneal opacities (clouding of the cornea)
-Hearing loss
-Intellectual disability
-Seizures
-Developmental delay

Naxos disease is a rare genetic disorder caused by a mutation in the plakophilin-2 gene. This gene is responsible for the production of a protein that helps to form the desmosomes, which are structures that help to hold cells together. When this gene is mutated, it can lead to the disruption of the desmosomes, resulting in the symptoms of Naxos disease. These symptoms include skin blistering, cardiomyopathy, and woolly hair.

The treatment for Naxos disease is focused on managing the symptoms and preventing further damage to the heart. Treatment may include medications to reduce the risk of arrhythmias, lifestyle changes to reduce the risk of heart disease, and surgery to repair the heart. Medications may include beta-blockers, ACE inhibitors, and diuretics. Lifestyle changes may include quitting smoking, eating a healthy diet, and exercising regularly. Surgery may include repairing the heart muscle or replacing the damaged heart tissue with a donor heart.

The primary risk factor for Naxos disease is having a family history of the condition. Other risk factors include having a genetic mutation in the plakophilin-2 gene, being of Mediterranean descent, and having a family history of cardiomyopathy.

At this time, there is no known cure or medications for Naxos disease. Treatment is focused on managing the symptoms and complications of the disease. This may include physical therapy, occupational therapy, speech therapy, and medications to help manage the symptoms.