z1Host Max Tucci sits down with Debi Houliares and Zach Houliares to talk about Zach’s story and to help bring understanding and awareness to CMT6. Knowledge is power and together we can move mountains.

What is Charcot-Marie-Tooth disease (CMT)?
Charcot-Marie-Tooth disease (CMT) is a neurological disorder named after the three physicians who first described it in 1886 — Jean-Martin Charcot and Pierre Marie of France, and Howard Henry Tooth of the United Kingdom.

CMT causes damage to the peripheral nerves, which carry signals from the brain and spinal cord to the muscles, and relay sensations, such as pain and touch, to the brain and spinal cord from the rest of the body. There are a number of types of CMT.
What are the symptoms of CMT?

CMT causes muscle weakness and atrophy, and some loss of sensation in the feet, the lower legs, the hands and the forearms. It also often causes contractures (stiffened joints due to abnormal tightening of muscles and associated tissues), and sometimes, curvature of the spine (scoliosis).

At the severe end of the CMT spectrum, the disease can affect nerves other than those that go to and from the extremities. If the nerves that go to and from the diaphragm or intercostal (between the ribs) muscles are affected, respiratory impairment can result. For more, see Signs and Symptoms.
What causes CMT?

CMT is caused by defects in the genes for proteins that affect axons — fibers that carry electrical signals between the brain and spinal cord and the rest of the body — or in the genes for proteins that affect myelin, a coating on axons that insulates and nourishes them.

More than 30 genes have been implicated in CMT, each one linked to a specific type (and in many cases, more than one type) of the disease.

CMT can be inherited in several ways: autosomal dominant (through a faulty gene contributed by either parent); autosomal recessive (through a faulty gene contributed by each parent); or X-linked (through a gene on the X chromosome contributed by either parent.)

The History of HNF

Hereditary Neuropathy Foundation (HNF) is a non-profit 501(c)3 organization which raises awareness, funds scientific research, and educates the medical community as well as the general public about Charcot-Marie-Tooth disease (CMT).

HNF developed the Therapeutic Research in Accelerated Discovery (TRIAD) as a collaborative effort with academia, government, and industry to develop treatments for CMT. Currently TRIAD involves many groups that span the drug discovery, drug development, and diagnostics continuum.

HNF is actively committed to increasing awareness and accurate diagnosis of CMT and related inherited neuropathies. Major projects include the production of the documentary “Bernadette“, publication of a series of children’s books, Arlene On the Scene and Arlene the Rebel Queen, and quarterly CMT Update Newsletters.

HNF supports patients and families with critical information to improve quality of life and is dedicated to finding treatments for CMT. We provide a strong, organizational voice to those living with CMT all over the world.

For more info or to make a donation please visit www.hnf-cure.org

Zach’s Story understanding CMT6

| Interviews, Spotlight |
About The Author
-

You may use these HTML tags and attributes: <a href="" title=""> <abbr title=""> <acronym title=""> <b> <blockquote cite=""> <cite> <code> <del datetime=""> <em> <i> <q cite=""> <s> <strike> <strong>