Newswise — LOS ANGELES (Jan. 29, 2014) – Cedars-Sinai will present a one-day conference for patients and families affected by Charcot-Marie-Tooth disease, the most common inherited neurological disorder, which damages nerves controlling muscles, primarily in the legs and feet.
The disorder typically causes high arches, clumsiness and progressive foot and leg deformity but often is overlooked or poorly understood by families and doctors. Experts say many people have mild symptoms that need little, if any, treatment. For more challenging cases, early intervention by CMT specialists can make a big difference in long-term quality of life.
Although Charcot-Marie-Tooth is a new term to many parents seeking answers after noticing their children becoming increasingly awkward, the disorder has been known since 1886. It takes its name from the three doctors – two in France and one in England – who first described it. Since then, CMT has been subclassified into many different types. The most common form, CMT1, breaks down myelin, the “insulation” surrounding nerve fibers. In response, myelin is deposited and then broken down over and over again. Thick layers build up around nerve cells, eventually bogging down the electrical “cables” that myelin is supposed to protect.
At least 70 genetic defects have been identified as causes of CMT. Symptoms, severity and time of onset vary greatly, depending on the genes involved. In some instances, symptoms appear in adulthood even though the patient has carried the genetic defect throughout life.
Common symptoms include:
• Weakness in the lower extremities
• High arches
• Curled hammer toes
• Foot drop – the inability to hold the foot in the horizontal position
• Unstable gait
• Balance problems
• Decreased feeling in the feet
• Pain, in some cases
• Weakness in the hands and decreased sensitivity to heat and cold as the disease progresses
“Many people, both adults and children, see doctor after doctor in search of an explanation for their symptoms,” said Robert H. Baloh, MD, PhD, director of neuromuscular medicine in the Department of Neurology. He heads Cedars-Sinai’s Charcot-Marie-Tooth/Hereditary Neuropathy Center with Richard A. Lewis, MD, director of the EMG (electromyography) Laboratory and co-director of the Neuromuscular Clinic, and Glenn B. Pfeffer, MD, director of the Foot and Ankle Program at Cedars-Sinai’s Orthopaedic Center and co-director of the Cedars-Sinai/USC Glorya Kaufman Dance Medicine Center.
In addition to providing treatment expertise, Baloh and Lewis research genetic and molecular foundations of CMT and other neuromuscular and neurodegenerative disorders. Pfeffer studies sports injuries and reconstruction of the foot and ankle, and has pioneered several minimally invasive techniques. The CMT/Hereditary Neuropathy Center is recognized by the Charcot-Marie-Tooth Association as a Center of Excellence.
“One of the first and most important tasks we have when a new patient comes to our clinic is to allay their fears and help them understand what CMT is and what it is not,” Lewis said. “CMT is not life-threatening, although it can affect quality of life. Most people will continue to be able to walk on their feet, living full lives, although they may have to make some adjustments. Leg braces may be needed at some point, and patients may have to find sports and activities that are compatible with their strengths.”
Pfeffer said patients and parents need to know that something can be done to help most people diagnosed with CMT, despite what they may have been told.
“Focused physical therapy may be an option that will keep a child walking and running for a long time,” he said. “Specialists in orthotics may be able to provide shoe modifications and devices that will support and stabilize the feet. When needed, reconstructive foot and ankle surgery can be life-changing, but this should be done by a surgeon who is well-versed in the complexities of CMT. To straighten and balance a contorted foot, tendons and muscles must be moved and the foot must be reshaped to rest flat on the ground. Timing of this is critical; the earlier in adolescence reconstruction is done, the better the chance of an excellent result.”
Pfeffer, Lewis, Baloh and specialists in physical therapy, bracing, social and emotional health, genetics and other CMT-related topics will speak at the Feb. 15 conference, which is co-sponsored by the CMT Association, a national advocacy and education network. Patrick A. Livney, CEO, and others from the CMTA will speak at the conference and be available to answer questions.
A $50 registration fee covers valet parking, a light breakfast, lunch and snack. The event, which will run from 8 a.m. to 5 p.m., will be in the Morse Auditorium at Cedars-Sinai Medical Center, 8700 Beverly Blvd., Los Angeles.
For details and registration, contact the Charcot-Marie-Tooth Association at its website: www.cmtusa.org. Feb. 7 is the last day to register. The CMTA also will sponsor an opportunity to meet Cedars-Sinai’s CMT experts and tour the clinic facilities Friday, Feb. 14, from 5 to 7 p.m.
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