New Molecular Entity Associated With Facial Paralysis Identified

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Dr. Babak Azizzadeh, renowned facial paralysis expert, shares his thoughts on the findings by researchers at Mount Sinai School of Medicine

The Facial Paralysis Institute

The Facial Paralysis Institute

The more we learn about the molecular characteristics the better. Identifying new molecular entities, particularly those associated with painful and disheartening conditions such as facial paralysis

Researchers at Mount Sinai School of Medicine, one of the leading medical schools in the United States, recently identified a new molecular entity associated with congenital facial paralysis, a disease known for making it difficult for patients to smile or show any facial expressions.

For the study, which was published in the American Journal of Human Genetics, researchers screened genes in a large group of patients with facial paralysis, identifying the clinical characteristics of the patients and then correlating them with their genetic makeup. These patients were initially diagnosed with Moebius syndrome, a disorder with defects in two cranial nerves.

The research, lead by senior investigator Dr. Jabs of Mount Sinai School of Medicine, identified a founder mutation in individuals with congenital facial palsy, hearing loss, and strabismus in German-American families. The founder mutation, known as homeobox (HOXB1), is involved in cellular and tissue patterning of the body. But while the patients suffered congenital facial weakness and hearing loss, none of the individuals had limited outward movement of either eye, meaning they did not have Moebius syndrome.

“The more we learn about the molecular characteristics the better. Identifying new molecular entities, particularly those associated with painful and disheartening conditions such as facial paralysis, will help us redefine conditions based on our findings, and evaluate treatment options accordingly,” says Dr. Azizzadeh.

Patients (under the age of 55) who have had long-term paralysis are able to undergo advanced surgical procedures to re-create dynamic and spontaneous smile mechanisms. These nerve transplants give patients the ability to utilize the facial nerve in the normal side of the face to drive the facial movement in the paralyzed side.

“Patients with long-term paralysis, two years or more, have non-functional muscles. Therefore, new vascularized muscle needs to be attached to the cross-facial nerve grafts after the nerve has been activated. The nerve grafts need to be activated for 8-12 months before the muscle is transferred, and two stage procedures are typically required for cross-facial nerve grafts,” says Dr. Azizzadeh

During the first stage of the procedure, nerve grafts are harvested from the lower leg and attached to the normal facial nerve. For the second stage of the procedure, gracilis muscle free flap is harvested from the inner thigh and attached to the cross-facial nerve graft and arterty/vein in the neck. Physical therapy is continued for 18 months, and facial movements are gradually realized about eight months following the second stage of surgery, and continued for two years.

Dr. Babak Azizzadeh is a renowned Beverly Hills facial plastic surgeon, recognized as a Top Doctor by the US News & World Report. Since his extensive and prestigious training at Harvard Medical School, Dr. Azizzadeh has helped countless people with facial paralysis and Bell's Palsy. Dr. Azizzadeh is the director of the Facial Paralysis Institute and founder of the non-profit Facial Paralysis & Bell's Palsy Foundation. He is the principle investigator of the facial nerve regeneration project at Cedars-Sinai and the author of five bestselling books, including the definitive facial paralysis textbook entitled “Slattery Facial Nerve.”

Dr. Azizzadeh is trained in Facial Plastic & Reconstructive Surgery, as well as Head & Neck Surgery, giving him a distinctive insight into facial nerve function and facial aesthetics. He has been recognized for his work on several occasions, and has appeared on the Oprah Winfrey Show for his expertise in facial nerve reconstruction. Dr. Azizzadeh is also the director of the USC Facial Plastic Fellowship Program as well as the Cedars-Sinai Multispecialty Plastic Surgery Symposium.

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Risa Luksa

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