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CHARCOT-MARIE-TOOTH DISEASE

ALSO KNOWN AS HEREDITARY MOTOR AND SENSORY NEUROPATHY

DEFINITION: The Charcot-Marie-Tooth Association (2016) states that


Charcot-Marie-Tooth (CMT) Disease is a hereditary group of conditions that
cause damage to the peripheral nervous system. This causes muscle
weakness and sensory problems. There are 90 diff erent types of CMT.
According to the National Institute of Neurological Disorders and Stroke
(2007), CMT is found in 1 in every 25,000 people in the United States.

CAUSES
The Charcot-Marie-Tooth Association (2016) states that most types of CMT come
from mutant dominant genes that are passed down from parent to child. The gene
can be passed down through a recessive gene as well. Sometimes, the CMT gene
can be passed down to the child without either parent having the CMT gene.
According to Mayo Clinic Staff (2016), the mutation causes the damage to the
nerves. This will result in brain messages being poorly sent to the peripheral
nervous system. Risk factors include having family members that are diagnosed
with CMT or diabetes, which can make symptoms more severe.

SIGNS AND SYMPTOMS


Mayo Clinic Staff (2016) lists the symptoms of CMT as weakened muscles in the
legs, ankles, and feet. High arches in the feet and bending of the toes are
symptoms as well. People with CMT may have difficulty running, foot drop, and a
higher step when walking. As the disease continues, weakness can move from the
lower extremity to the arms and hands. The Charcot-Marie-Tooth Association (2016)
states that pain is a symptom as well. The National Institute of Neurological
Disorders and Stroke (2007) explains that the harshness of these symptoms change
from person to person.

PROGRESSION OF THE DISEASE


According to The National Institute of Neurological Disorders and Stroke (2007), CMT
usually begins around young adulthood. As the symptoms progress, many require
foot or leg orthotics in order to walk. Some may experience breathing trouble due to
weakened muscles. CMT does not cause death. Almost all people with the disease
live a full life.

STATISTICS
The Charcot-Marie-Tooth Association (2016) reports that 2.8 Million have CMT in the
world. It effects all races and cultures. According to The National Institute of
Neurological Disorders and Stroke (2007), about 1 in every 2,500 people in the
United States have been diagnosed with CMT. In 1886 Jean-Martin Charcot, Pierre
Marie, and Howard Henry Tooth identified the disease, thus giving it the name
Charcot-Marie Tooth.
TREATMENT
Mayo Clinic Staff (2016) states treatments for CMT. Medication can help relieve the
pain. Physical therapy can create exercises to strengthen and stretch the muscles.
Occupational therapy can work with assistive devices. They can strengthen the
arms and hands. Orthopedics can be provided for the legs and feet. Surgery is for
those with advanced foot conditions.

WHAT OCCUPATIONAL THERAPY COULD DO FOR CMT SYMPTOMS

WEAK MUSCLES
Chiu and Mann (2004) discuss the use of assistive devices for those with reduced
strength and movement. They conducted a study that involved training participants
in using assistive devices during their hospital stay and in their home. The study
concluded that the participants that received the training for using bath assistive
devices improved in their ability to bathe independently. Training of assistive
devices could be done in the home for those with CMT disease.

Due to weakened muscles, falls are possible for those living with CMT disease.
Chippendale and Boltz (2015) discuss the importance of fall prevention outside the
home. The researchers discuss the importance of fall prevention in reducing injury
and disability. Fall prevention programs should include an analysis of the clients
neighborhood. Occupational therapy practitioners can create fall prevention
interventions that are more client-centered for CMT patients.

PAIN
Hardison and Roll (2016) conducted a study on mindfulness for handling pain. They
found that mindfulness interventions have shown to be beneficial for living with
chronic pain. Occupational therapy practitioners could use mindfulness for patients
with CMT disease. This would decrease the pain they have.

Harvard Health Publications (2015) discusses the benefits of yoga for pain. It
includes mindfulness, strengthening, and stretching. They stated that yoga helped
movement and mental health. Yoga could be a treatment for pain due to CMT
disease.

REDUCED MOBILITY
Weakness in the legs and feet may lead to reduced mobility. An article by Pacifica
Orthopedics (2012) states how occupational therapy practitioners can help with
mobility. They can help with mobility devices. They can evaluate homes and
workplaces. This is done to make adaptations that will improve patients access.
Patients with CMT disease may need this done due to their decrease in mobility.

2
Refrences

Charcot-Marie-Tooth Association. (2016, June 06). What is CMT? Retrieved January


25, 2017, from https://www.cmtausa.org/understanding-cmt/what-is-cmt/

Chippendale, T., & Boltz, M. (2015, July). Perceived Neighborhood Fall Risks and
Strategies Used to Prevent Outdoor Falls: Does Age Matter? American Journal of
Occupational Therapy, 69. doi:10.5014/ajot.2015.69S1-PO6102

Chiu, C. W. Y., & Man, D. W. K. (2004). The effect of training older adults with stroke
to use home- based assistive devices. Otjr, 24(3), 113-120. Retrieved from
http://nctproxy.mnpals.net/login?
url=http://search.proquest.com/docview/220306229?accounti d=40780

Hardison, M. E., & Roll, S. C. (2016). Mindfulness interventions in physical


rehabilitation: A scoping review. The American Journal of Occupational
Therapy, 70(3), 1-9. doi:http://dx.doi.org/10.5014/ajot.2016.018069

Harvard Health Publications. (2015, April). Yoga for Pain Relief. Retrieved January 30,
2017, from http://www.health.harvard.edu/alternative-and-complementary-
medicine/yoga-for-pain-relief

Mayo Clinic Staff. (2016, March 31). Charcot-Marie-Tooth disease. Retrieved January
25, 2017, from http://www.mayoclinic.org/diseases-conditions/charcot-marie-
tooth-disease/home/ovc- 20198772

Pacifica Orthopedics. (2010, September 03). The Role Of The Occupational Therapist
in Orthopedics. Retrieved January 30, 2017, from
http://www.pacificaorthopedics.org/wp10/orthopedics/the- role-of-the-occupational-
therapist-in-orthopedics/

National Institute of Neurological Disorders and Stroke. (2007, April). Charcot-Marie-


Tooth Disease Fact Sheet. Retrieved January 25, 2017, from
https://www.ninds.nih.gov/Disorders/Patient- Caregiver-Education/Fact-
Sheets/Charcot-Marie-Tooth-Disease-Fact-Sheet

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