Senter syndrome
Senter syndrome is a rare genetic disorder characterized by pigmentation abnormalities, sensorineural hearing loss, and peripheral neuropathy. The syndrome is named after the researcher who first described it, Dr. Senter.
Symptoms and Signs[edit | edit source]
The primary symptoms of Senter syndrome include:
- Pigmentation abnormalities: These can range from hypopigmentation (reduced pigmentation) to hyperpigmentation (increased pigmentation), and can affect any part of the body.
- Sensorineural hearing loss: This is a type of hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII).
- Peripheral neuropathy: This is a result of damage to the peripheral nerves, often causing weakness, numbness and pain, usually in the hands and feet.
Causes[edit | edit source]
Senter syndrome is caused by mutations in the MITF gene. This gene provides instructions for making a protein that plays a role in the development of several types of cells, including melanocytes (cells that produce the pigment melanin), osteoclasts (cells that break down bone), and mast cells (cells that play a role in the immune system).
Diagnosis[edit | edit source]
Diagnosis of Senter syndrome is based on the presence of the characteristic symptoms and confirmed by genetic testing showing a mutation in the MITF gene.
Treatment[edit | edit source]
There is currently no cure for Senter syndrome. Treatment is symptomatic and supportive, and may include hearing aids for sensorineural hearing loss and physical therapy for peripheral neuropathy.
See also[edit | edit source]
References[edit | edit source]
Senter syndrome Resources | ||
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Contributors: Prab R. Tumpati, MD