Charcot Marie Tooth Disease - CMT Disease - Hereditary Neuropathy

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As a newly married insurance executive living in Manhattan, nothing could have prepared Allison Moore, then 29, for the sudden change her life was about to make. While training for a marathon, Moore went to her doctor complaining of a sore muscle and left with a diagnosis of a rare cancer.
"I thought things couldn't get any worse" Moore says. "But I was wrong"
Her doctors prescribed an aggressive series of medications, overlooking the fact that her father had a hereditary neuromuscular condition called Charcot-Marie-Tooth (CMT). The drugs were contraindicative for people with the disorder, which means they may cause harmful side-effects.
Almost immediately after taking them, Moore experienced impairment in her ability to walk, frequently lost her balance and the ability to perform many simple tasks, like twisting off a bottle cap. Her cancer soon went into remission, but her neuropathy did not improve. Still it would be two years until she was formally diagnosed with CMT.
Although CMT is the most commonly inherited neuropathy, very few people have heard of it, even within the medical community, says Moore, who is founder of the Hereditary Neuropathy Foundation (HNF) which expands the awareness of the disease worldwide through its extensive database.

The Symptoms of CMT
The condition typically surfaces in adolescence or early adulthood but symptoms can manifest at any age. Warning signs can iunclude a high-stepped gait, loss of muscle mass in the lower leg, frequent tripping or falling, hammertoes or other foot abnormalities, decreased sensitivity to heat, touch or pain, muscle weakness and difficulty with fine motor skills, like writing.

Diagnosing CMT
According to HNF, some symptoms of CMT can mimic symptoms of other neuromuscular disorders, including Amyotrophic Kateral Sclerosis (ALS), or Lou Gehrig's disease, leading to frequent misdiagnosis (Jean Charcot, one of the founders of the disease, also discovered ALS). Many doctors won't initially screen for CMT unless it is mentioned specifically.
"it wasn't until my brother and I were diagnosed that my mother discovered she had been misdiagnosed with polio when, in fact, she had CMT," says Susan Wheeler, 46, who was diagnosed with the condition as a child. Wheeler also works alongside Moore at HNF supporting others who are living with CMT and other hereditary neuropathies.

Living With CMT
CMT impacts daily life. Tasks like walking to the store or lifting a coffee mug can be hard to achieve, as nerves leading to the extremities degenerate and patients slowly lose normal use of their legs, feet, arms and hands. Progressive muscle wasting can lead to problems with walking, running and balance.
With the proper diagnosis, care and the assistance of trained health-care professionals, CMT can be managed and controlled. Cutting-edge CMT treatment programs blend traditional medicine with complementary practices. This integrative approach is designed to enhance the quality of life as well as stave off symptoms.
Under the direction of a qualified neurologist, treatment options can include physical therapy, respiratory therapy, occupational therapy, orthotics (braces), orthopedic surgery, massage therapy, Amma therapy and Therapeutic Touch, relaxation and stretching exercises, guided imagery and meditation and chronic disease self-management.
Moore wears Helio Braces, an innovative and new concept in bracing that, in addition to support and strengthening, works to correct deformity where possible. Wheeler, on the other hand, has an advanced case of CMT. She uses traditional braces known as Ankle Foot Orthotics (AFO), walks with a cane and/or walker, drives with special controls and requires a bi-pap ventilator and oxygen for 10-12 hours a day.
"The progression has been gradual, but consistent and always unpredictable," she says. However, known for her tenacity and determination, Wheeler continues to maintain a successful career. "I truly hope that the dedication and hard work of Allison Moore and the Hereditary Neuropathy Foundation will help to educate the medical community.
Founded in 2000, the HNF is spearheading fund-raising efforts to increase the number of CMT research projects. For more information, please visit www.hnf-cure.org.