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Can You Die From Charcot Marie Tooth & How Do You Stop It From Spreading?

Charcot Marie Tooth (CMT) disease, also known as hereditary motor and sensory neuropathies, is the most common inherited disorder of the neuromuscular system. The Charcot Marie Tooth disease comprises of inherited neuropathies that is without any metabolic disorders. It is prevalent in 1 in every 2500 individual of the United States.

The disease can be further divided into several types designated as Charcot Marie Tooth type 1, CMT type 2, CMT type 3, CMT type 4 and CMT X (X-linked CMT). Charcot Marie Tooth can be inherited either as autosomal dominant, autosomal recessive or X-linked disorder. The peripheral neuropathy can either result from demyelination or direct axonal death.(1)

Can You Die From Charcot Marie Tooth?

Charcot Marie Tooth neuropathy affects both the motor and sensory branches of peripheral nerves; it usually does not affect the autonomic nerves. Motor nerves responsible for contracture and control of voluntary muscles are involved in speaking, breathing, swallowing and walking. The neuropathy of motor nerves leads to weakness of the foot and lower leg muscles resulting in foot drop, high stepped gait and frequent falls, trips and ankle sprains. Other characteristic signs include foot deformities, such as high arched foot, hammer toes that occur due to weakness of small muscles of the feet. Muscle wasting and atrophy of the lower legs leads to ‘inverted champagne bottle’ appearance of the affected lower limb. As the disease progresses, the weakness and atrophy may be seen in hands that may affect the motor skills of the hands, such as coordination of small movements of fingers, hands, wrists, feet and tongue.(2)

The symptoms are mostly seen in adolescence or early adulthood, but some people may also develop it later in life and around mid-adulthood. The severity of the symptoms also varies extensively among different people and even in families among different family members with the same disease. The pain can also range from mild to severe and requires the assistance of a foot or leg brace or some other orthopedic device for maintaining the mobility of the feet. Charcot Marie Tooth disease is a progressive disease and some people may also suffer from respiratory muscle weakness, but this scenario is quite rare. Most of the times, it is not considered a life threatening disease and individuals do not die from it, but it severely compromises the quality of life of the person suffering from it.(2)

How To Stop Charcot Marie Tooth From Spreading?

Charcot Marie Tooth is largely considered an incurable disease and patients are treated symptomatically in a multidisciplinary approach by a team or specialists, which include orthopedic surgeon, neurologist, physiatrist, physical therapist, occupational therapist, orthotists, mental health providers and genetic counselors. The management is aimed at improving the quality of life of the patients. Currently, there exists no medical treatment to reverse the condition or to slow the natural disease progression. There is no treatment that can be utilized to reverse the demyelination process or axonal degeneration, so the condition gradually progresses with time. There is hope for a future treatment option for the condition as there is improvement in understanding the genetics and biochemistry of the disease process. Studies conducted on animals suggest that lipid supplementation targeting myelin lipid metabolism can be a potential therapeutic approach for Charcot Marie Tooth 1A.(1)

Physical and occupational therapy are the preferred treatment options for Charcot Marie Tooth that involves muscle strength training, stamina training, muscle and ligament stretching, and moderate aerobic exercise. Muscle strengthening has the potential to delay the progression or reduce muscle atrophy and it is best to incorporate strength training at the very beginning of the nerve degeneration and muscle weakness to avoid disability abnormality. Stretching prevents joint deformities resulting from uneven muscle tension on bones. Low impact exercises or no impact exercises, such as swimming or biking should be performed. Ankle braces, other orthopedic devices, high-top shoes or boots, thumb splints or assistive devices can be used for prevention of injury and mobility of joints. Surgery can be performed for foot deformities.(2)


Also Read:

Sheetal DeCaria, M.D.
Sheetal DeCaria, M.D.
Written, Edited or Reviewed By: Sheetal DeCaria, M.D. This article does not provide medical advice. See disclaimer
Last Modified On:August 9, 2019

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