History/Causes
Types of CMT
Genetics
Diagnosis/Prognosis
Treatment
Living With CMT
New Research
Interesting Tid-Bits
Interview of Child With CMT and his family
References
- Find the definite genes that cause CMT (2)
- Compromises a third of all CMT cases
- Development of new genetic testing for this specific type (1)
- With the development of CMT 1A, what role does peripheral myelin protein (PMP22) play? How does making a little extra PMP22 so severely damage the myelin and nerves? Being able to track the intermediate pathways to get the final nerve. (1)
- How does the damage occur to the peripheral nerve by the excess PMP22? (1)
- Why are there different severities of the disease when it is from mutations on the same gene? (1)
- To determine the relationship between Schwann cells that make myelin and axons? (1)
- How do mutations in Schwann-cell myelin cause axonal degeneration? (1)
- How does neuropathy occur in the majority of CMT 1B cases have an unusual late childhood onset and less severe demyelination? (CMTX also has late childhood onset and less severe demyelination) (1)
- With CMT2, why is there significant axonal involvement? (1)
- Why is there variability in disease severity in the same family? (1)
Research questions related to daily living...
• How do toxic medications effect the speed of which the disease progresses? (1)
• How does pregnancy effect the progress of CMT? (1)
• Can it be prevented or reversed? (1)
• How can we slow down and or prevent atrophy or weakness in patients? (1)
Types of Research being done....
As with any research there are going to be people that are for and against the methods that are used to develop new treatments and possible preventions. Presently research that is being done is not being tested on humans but is being performed on animals. The problem with animal research is that the reaction of human adults and children may be different than the reactions of the animal, with the same treatment. Due to the difference in stages of development, the reaction to the same treatment will differ between adults and children. (1-2)
- Gene Therapy- it is possible to deliver genes to Schwann cells and muscle cells (1-2)
- Developing pre-implantation therapies- making it so that children will be ensured not to have CMT (1-2)
- Developing better orthotics and other rehabilitation aids- making it possible to maintain independence (1-2)
- Growth Factors/ trophic factors – prevention of motor neuron and nerve degeneration, to stop and possibly reverse atrophy and weakness (1-2)
- Stem cells- capable of generating specific cell types in the body (1-2)
-Recent findings in turning stem cells into nerve cells and myelin-producing cells (1-2)
- Genetically alter T cells – introduce genes into peripheral nerve (1-2)
- Use of viruses will introduce therapeutic genes into Schwann cells, nerves and muscles (1-2)
- Alter promoter genes and transcription factors to slow progress in the disease and possibly have reverse effects. (1-2)
References
1Future Research. Charcot-Marie-Tooth Association. Available at: http://www.charcot-marie-tooth.org/site/content/research/index.asp Accessed March 28, 2005.
2Facts About Charcot-Marie-Tooth Disease and Dejerine-Sottas Disease. The MDA Publications page. Available at: http://www.mdausa.org/publications/fa-cmt.html Accessed March 28, 2005.