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Charcot-Marie-Tooth Disease (CMT)

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Kayla Phatsadavong

on 8 April 2014

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Transcript of Charcot-Marie-Tooth Disease (CMT)

Charcot-Marie-Tooth Disease (CMT)
Diagnosis
Symptoms
Weakness in your legs, ankles and feet
Loss of muscle bulk in legs and feet
High foot arches
Curled toes (hammertoes)
*Hammertoes is when your toes are curled/bent in*
Decreased ability to run
Difficulty lifting your foot at the ankle (footdrop)
Awkward or higher than normal step (gait)
Frequent tripping or falling
Decreased sensation or a loss of feeling in your legs and feet
What is CMT?
Clinical Trials
So far there was been 336 clinical trials for CMT,
106 have been completed, and 80 clinical trials still in progress.
Every clinical trial has used a different or various drugs
http://clinicaltrials.gov/ct2/results?term=Charcot-Marie-Tooth+Disease
Treatment/Therapy
Physical therapy can stretch and strengthen the weak muscles.
Occupational therapy will help.
Orthopedic devices, like braces or splints, or special shoes or inserts, can help the individual to walk more easily.
Thumb splints can cause a return some abilities.
A back brace may be in order for those with scoliosis
Gene therapy
There is no gene therapy for this disease
Gene therapy is the insertion of genes into an individual's cells and tissues to treat a disease,
Also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy
Disease that affect the peripheral nerves (Nerves that lay outside of the brain and spinal cord)
CMT is a genetic disease of nerves, usually with progressive muscle weakness, which affects the arms and legs
1 in 2,500 people in the United States inherit CMT
Disease occurs when the duplication of the chromosome's short arm
Charcot-Marie-Tooth disease DNA test showing duplication in the short arm of chromosome 17 (A); compared with normal (B)
Inherited by the 46 chromosomes of the parents
Pedigree
What is a Pedigree?
A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the other
Sources
http://halmanngen677s13.weebly.com
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001741/
http://www.mayoclinic.org/diseases-conditions/charcot-marie-tooth-disease/basics/definition/con-20029920
http://cmtausa.org
Support Groups
Local support group
Atlanta, GA CMT Support and Action Group3110 Ashford Dunwoody Rd NE
Atlanta, GA 30319
United States
Website: http://www.cmtausa.org/url/at/
National support group
Charcot-Marie-Tooth Association (CMTA)2700 Chestnut Parkway
Chester, PA 19013-4867
info@cmtausa.org
http://www.cmtausa.org/ External link
Tel: 610-499-9264 800-606-CMTA (2682)
Fax: 610-499-9267

In the physical exam the doctor will look for:
Signs of muscle weakness in your arms, legs, hands and feet
Decreased muscle bulk in your lower legs, resulting in an inverted champagne bottle appearance
Reduced reflexes
Sensory loss in your feet and hands
Foot deformities, such as high arches or hammertoes
Other orthopedic problems, such as mild scoliosis or hip dysplasia
After physical testing the doctor will recommend:
Nerve conduction studies
Electromyography (EMG)
A thin needle electrode is inserted into the muscle to test electrical activity
Nerve biopsy
Genetic testing
Future Outcome
As Charcot-Marie-Tooth disease slowly gets worse. Some parts of the body may become numb, and pain can range from mild to severe. Eventually the disease may cause disability.
The disease does not affect your life span
Background info
Full transcript