Could new study lead to a treatment for CMT?

A new study into a subtype of Charcot Marie Tooth, which was conducted by researchers from The Scripps Research Institute (TSRI) and the Salk Institute for Biological Studies, could one day lead to a treatment for patients with Charcot Marie Tooth.

The researchers found that a mututation in protein called glycyl-tRNA synthetase (GlyRS) could led to nerve damage in CMT2D, and they say  one day it might be possible to target this malfunctioning protein and restore normal function in patients with CMT.

In a press release, TSRI Professor Xiang-Lei Yang, senior author of the new study with Samuel Pfaff, a neuroscience professor at the Salk Institute and a Howard Hughes Medical Institute investigator, said:

“This is the first major advancement toward a molecular mechanistic understanding of CMT subtype CMT2D.”

“These findings will help us develop future diagnostics and treatments.”

Researchers found that GlyRS can attach to  a growth factor known as vascular endothelial growth factor (VEGF)and interfere with the connection between the brain and the limbs. However, a study on mice found that by increasing levels of VEGF, it was then possible for it to out compete GlyRS, and the mice with CMT were able to gain more muscle strength and had fewer symptoms of CMT.

Commenting on this discovery Plaff said:

“This solves a long-running mystery of how a gene mutation damages the neurons that carry information from the spinal cord to our muscles, resulting in a range of sensory and movement problems.”

It’s an exciting finding, as we were able in experiments to reduce the symptoms of the disease by targeting the activity of these proteins.

The next stage is to “develop targeted strategies that could recognize and intercept GlyRS mutants before they block VEGF; this could have implications for other forms of CMT.

The study was published in the journal Nature on October 21st, 2015.

Story link:


Alert cards for patients suffering from muscle wasting conditions

Muscular Dystrophy UK has made an alert card available for people who have Duchenne Muscular Dystrophy, Charcot Marie Tooth, limb girdle muscular dystrophy and Spinal Muscular Dystrophy.

Muscular Dystrophy UK say they have already sent out more than 4,000 of the cards and they have received plenty of positive feedback from the recipients.

Soon, Muscular Dystrophy UK plans to make the cards available for people withother muscle wasting conditions such as Becker muscular dystrophy and myotonic muscular dystrophy types 1 and 2.

There are also plans to make a care plan available online that will be helpful for anyone living with a muscle wasting condition.

Further information can be found at:

Hope on the Horizon?

Researchers from the Department of Neurogenetics at the Max Planck Institute of Experimental Medicine and University Medical Centre Göttingen believe that they might have found a potential therapy for Charcot Marie Tooth Type 1A, the most common of the hereditary neuropathies.


Electron microscopic images of cross sections of nerves in a healthy rat (left), a rat suffering from CMT1A (centre) and a rat suffering from CMT1A that has been treated with neuregulin-1 (right). The neuregulin-1 treatment leads to improved myelination in the CMT1A rat model, which comes close to that of healthy animals.
Credit: © Fledrich et al, Nat. Med. 2014

The researchers discovered that the maturity of Schwann cells is impaired in rats with the disease. These cells would usually provide insulation for the myelin sheaf, which enables the smooth functioning of nerve impulses. However, when the Schwann cells don’t mature correctly, then this can leave the nerves without a sufficient amount of myelin.

According to the researchers, a nerve growth factor called  neuregulin-1 has shown “immense therapeutic potential”. Rats treated with neuregulin-1 have more myelinated nerve fibres and fewer symptoms of CMT.

Commenting on the research, co-author Ruth Stassar,said: “In genetically modified rats, even a brief neuregulin-1 treatment within the first two weeks of life improves the animals’ disease symptoms until they reach adulthood.”

Scientists and researchers from Michael Sereda’s Research Group plan to conduct further studies to “drive forward the development of a treatment for Charcot-Marie-Tooth disease type 1A”. However, it will be a long time before the growth factor can be used on patients as neuregulin-1 is not safe for use in patients; the researchers intend to use drugs that can imitate the neuregulin-1 signalling pathways when they undertake further studies.

Cedars Sinai Opens Center for Pediatric Neurogenetics and Neuromuscular Discorders

Cedars Sinai Medical Center has announced the opening of the Pediatric Neurogenetics and Neuromuscular Center. Based in Southern California, the center will give pediatricians, pediatric neurologists and the parents of children with hereditary neurological diseases or nerve-related disorders a new resource. The center will have state-of-the-art research and treatment facilities, expert diagnostics and genetic testing.

The co-directors of the center are Robert H. Baloh, MD, PhD, who is also the director of the Neuromuscular Medicine, ALS Program, and Tyler M. Pierson, MD, PhD, a member of the Departments of Pediatrics and Neurology at Cedars-Sinai.

In a news release, co-director Robert H. Baloh, MD, PhD, said:

“When an infant or child shows signs of a disorder of the brain, spinal cord, nerves or muscles, a pediatrician or pediatric neurologist in the community usually would like to refer them to a specialty clinic at a large treatment and research center, but many of these disorders have overlapping symptoms, making it difficult to know which clinic is most appropriate. Our clinic removes this burden because research and treatment experts from several disciplines evaluate each child’s case to develop testing and follow-up strategies. As we reach a diagnosis, the appropriate expert takes the lead, coordinating ongoing care with the referring physician.”

Tyler M. Pierson, MD, PhD, said:

“Parents often are desperate for answers and don’t know where to start. As a group, we look at each patient’s case and say, ‘This is what we think is going on, these are the types of physicians you need, and this is the testing that will begin to bring it all together.’”

The center will provide testing and care for rare conditions such as Ataxia, Muscular Dystrophy and hereditary neuropathies including Charcot Marie Tooth.

It was announced recently that Cedars Sinai Medical Center was awarded $3.5 million to study Charcot Marie Tooth.  More details are available here.


CMT In My Shoes Part 2 – Richard Wheeler

This is the second part of an article by Richard Wheeler. In this part Richard talks about CMT and mixed martial arts (MMA) training, the Hereditary Neuropathy Foundation and the CMTA.

An article posted about CMT and mixed martial arts (MMA) training led me to the Hereditary Neuropathy Foundation (HNF) and fueled a small fire in the back of my mind. I have loved MMA fighting for years and tried to dabble in some of the training on my own in my earlier years. I often joked about hosting a Paralympics type of exhibition MMA match among competitors with similar CMT symptoms with some sort of restrictions to minimize serious injury. Part of this dream was inspired by scene in the old western TV series Bonanza about the struggles of an artist who became blind and felt angry about losing the ability to defend himself. Another inspiration came from a scene in the movie My Left Foot about a severely crippled boy in Ireland. He actually starts a fight in a pub with a drunk disrespecting his dead father they had just buried that day and there is joy in his eyes as a result.

Both CMTA and HNF promote athletes and teams to raise awareness and funds for research that goes directly to developing treatments and discovering cures for CMT. All three organizations, MDA, CMTA, and HNF have done an extraordinary job of funding research and teaching the public about CMT and I don’t see any sign of any of them giving up until we have cured CMT. I did notice a very common, traditional, family tone to the athletic outreach programs and started to think about the 31 million MMA fans that might not be reached through current efforts.

Another acronym has been born! MMA 4 CMT is the tool I will use to entertain my own twisted concepts about battling CMT, but more importantly I will work to earn the attention of the 31 million MMA fans to educate them about the existence of this disorder that affects 150,000 Americans and 2.6 million people worldwide. I have no intention of diluting the fund raising efforts already in place. I just want to make enough noise to reach some of us deafened by too much loud music! Somehow I will parlay this attention to reach out to the medical community so that people have a greater chance at a proper diagnosis if they have CMT which will help them to find the right resources to live a better
life with CMT!

You can read part one here.

Picture courtesy of Richard Wheeler

Picture courtesy of Richard Wheeler

STAR Pathways Campaign Launched by the National Charcot Marie Tooth Association

The US-based National Charcot Marie Tooth Association announced the launch of the STAR Pathways initiative on Friday. The Strategy to Accelerate Research (STAR) aims to deliver the first treatments for patients with Charcot Marie Tooth (CMT). An international consortium of peripheral neuropathy researchers and clinicians will work together to help find treatments for the millions of people affected by the disease.

The Charcot Marie Tooth Association says it will raise $25 million over the next two years to “sponsor continued scientific research specifically targeting CMT, type 1A”. The news release also states that “2A and 2E are also being examined under the same research protocol”.

The news release states:

“The opportunities associated with STAR stem from the identification of 51 specific gene defects opening an extraordinary window of opportunity to develop treatments and cures for CMT in the immediate and foreseeable future. STAR’s unique character stems from the willingness of the scientists to come together to advance CMT research as a team, sharing and communicating ideas, discoveries and research findings. Leveraging and promoting this unique expertise in a collaborative manner is what makes STAR unique.”

“STAR reached noteworthy success in 2012 when potential treatment options, many of which capitalized on scientific breakthroughs in genetics, saw significant progression.  This progression led to STAR Pathways, the integration of a directed protocol to determine effective treatments for those with CMT through the following steps: building cell lines for testing purposes, creating an animal model through which drugs may be tested, putting cell lines through intense screening at the National Institute of Health (NIH) to diagnose the impact on the disease, testing compounds that are effective at regulating CMT during a pre-clinical phase, investigating the safety of newly established medication and two phases of human trials.”


CMT in my Shoes – Richard Wheeler

This post was written by Richard Wheeler. You can visit his blog at

Arthur Keeney came to California from Oklahoma, with his wife Grace and the first few of thirteen children, back in the “dust bowl” days immortalized in John Steinbeck’s 1939 “The Grapes of Wrath”. He was in his late sixties in my early childhood and had the oddest hands and walking gait. The fingers of his hands were tightly gripped into his palms and his thumbs hung limp and useless. He could really work those knuckles though and would smack them down hard and loud on the kitchen table if any of us children became disrespectful. He wore the traditional hats, shirts, and trousers that many men of his generation did. However, he always wore the highest combat boots and walked with a “marching” gait as if he were always stepping over some obstacle.

While he was still with us, it had always been assumed that he had suffered “bent bones” from early childhood polio. None of his thirteen children showed any signs of his disability and no inherited disorder was ever suspected. I was the first great-grandchild and I did not show any early, obvious signs and there was no anticipation at that time. I was never first place in physical competition, but could usually place second or third. I used to have terrible “growing” pains and frequent neck pain that would be very painful and make it impossible to turn my head for several days.

I did not have a “dad” figure around until twelve and whenever I tried doing the “guy” things that required hand dexterity on my own I found it so frustrating that I suffered extreme angry melt-downs that I kept to my little self.
I remember trying to put together a model car and every time I tried to remove a piece I would break it, and got more glue on my hands, clothes, and desk than on the car. I smashed it into bits. I felt that I was defective due to lack of
father figure. I am not reporting this to gain sympathy nor cause my Dad who I now know, love, and appreciate any pain or guilt. Rather I intend to illustrate how important the medical knowledge alone could have been in helping me deal with the issues.

I am reminded of my Great-Grandpa Keeney, an extraordinary man who lived a long and hard working life. He did his best to raise a huge family and instill a proper Christian work ethic in them. He suffered pain and the inability to perform many daily tasks that most can take for granted without ever any knowledge of why or hope for any relief, let alone a cure. A cure for what? I don’t think he enjoyed the financial support that allows many people with disabilities today, in America, to live a relatively comfortable, secure life.

Some time after he passed away my cousin, the third or fourth great grandchild I think and my mom’s sister’s first son, received a diagnosis of Muscular Dystrophy at an early age and was placed in extremely rigid AFO’s immediately. Soon symptoms were beginning to be reported by some of Arthur’s daughter’s sons and more of the other great grandsons. At nineteen, I was diagnosed with Charcot Marie Tooth only experiencing a minor loss of foot strength and range of motion at that time. I was told by the diagnosing physician that there was no way to know the course of the disease for myself, no treatment or physical therapy to do, to stay active but not over exert myself, and oh yeah, stay off drugs and alcohol.

The doctors at that time were telling me I had CMT, a muscular dystrophy. The Muscular Dystrophy Association (MDA) paid for that first visit and later in life as my denial and fight against CMT began to take it’s physical and spiritual toll. The MDA has provided braces at times but I soon tired of EMG’s and NCV’s that were painful and provided nothing but confirmation of deterioration that was visually apparent. Many of those tests were required to prove I still had CMT for various services I needed. The clinics I attended seemed to use me as teaching tool and did not really interact with me as a person. I was even told at one point by a doctor that I did not have Muscular Dystrophy, CMT was a Neuropathy and that I should not count on MDA’s support much longer. Years later I learned that doctor was both right and wrong! CMT
is an inherited peripheral neuropathy but is still supported by the MDA.

Picture courtesy of Richard Wheeler

Picture courtesy of Richard Wheeler

With bracing, further education, and stubborn drive I continued to work into my forties. I am now forty-five and have spent much of the last couple years on my couch and in a power chair. Due to one lousy toe bending increasingly under my foot, I could no longer wear AFO’s. I resorted to soft OTC braces and a cane which led to falls, a minor leg fracture, sore hands, elbows, shoulders. The information now available about surgical options were overwhelming and I have family that went through some pretty major procedures years ago that did not produce desired results.

I again went to MDA and they helped me coordinate a visit to Stanford’s neuro clinic in California. What an amazing experience, they showed me new AFO products and had a line of specialist waiting to answer any questions I had and offer resources. Jennifer Fisher from MDA also met me and spent time discussing my needs and concerns. I was really approaching a low in my life that was scary before that visit. With renewed spirit I went to the MDA website looking for support groups I had avoided in the past for various personal reasons.

There was nothing close enough to attend but I kept searching. I think I found the link for the Charcot Marie Tooth Association (CMTA) in MDA’s online Quest magazine. There I found online support and discussion groups that exponentially multiplied my access to others with CMT as well as medical professionals that will respond to almost any CMT related issue. I found many new friends that understand and offer insightful advice for CMT issues and even other more personal concerns.

One of these CMTA friends led me to CMTUS on Facebook and wow, it was like catching another gear in a muscle car. Now I have another group of people I consider family. We often have minute to minute discussions providing revelations in our knowledge and awareness of our disorder and treatment options. Many questions that so many doctors simply do not have the answers to, such as “should I lift weights?” are discussed in enough detail by a large sample of people with CMT that one can learn what to educate their doctors about to help. The experiences reported on CMTUS provided me with the confidence and knowledge to discuss my options with my podiatrist and finally get some surgery. Very simple procedure has given me new lease on life. I can wear my AFO’s again!

Part Two of this post will be added later this week.