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Charcot Marie Tooth Disease Drug Discovery Service

As forward-looking research as well as a leading custom service provider in the field of neuroscience research, Creative Biolabs is capable of meeting the specific need of each customer with the best project design.

Introduction of Charcot Marie Tooth Disease

Charcot Marie Tooth (CMT) disease, also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy (PMA), is a group of inherited disorders that damage peripheral nerves. In the US, 126,000 people are affected by CMT. CMT can be divided into three forms, including autosomal dominant demyelinating CMT called CMT1, autosomal recessive CMT4, as well as a rare recessive form with severe penetrance that appears in early childhood, which is called CMT3. CMT is a progressive disease, which means that symptoms gradually worsen and eventually affect daily life and work. Classified as muscular dystrophy, symptoms of CMT may appear in adolescence or early adulthood.

Cause of Charcot Marie Tooth Disease

CMT is always caused by multiple genetic defects responsible for peripheral nerve development. Nerve signals are conducted by axons surrounded by myelin sheaths, and most mutations in CMT affect either myelin sheaths or axons. There are more than 80 genes related to CMT, most commonly PMP22, MPZ, MFN2, GJB1, HSPB8, etc. Among them, about half of CMT cases are caused by overexpression of the PMP22 gene due to duplication of a region on chromosome 17p11.2. There are many types of CMT caused by different genetic defects and inherited in several different ways.

  • Chromosome 17
  • X-linked CMT and schwann cells
  • GARS1-related axonal neuropathy

Fig.1 The pathogenic mechanisms underlying CMT2 and distal HMN converge to the axonal cytoskeleton.Fig.1 The pathogenic mechanisms underlying CMT2 and distal HMN converge to the axonal cytoskeleton. (Ydewalle, 2012)

Signs and Symptoms of Charcot Marie Tooth Disease

  • Weakness in the legs, ankles, and feet
  • Decreased ability to walk and run
  • Numbness in feet, arms, and hands
  • Trips or falls frequently
  • Hammertoes

Diagnostic and Treatment of Charcot Marie Tooth Disease

Since there is substantial overlap between different forms of CMT, the diagnosis of different types of CMT is very important. In addition, CMT should be distinguished from genetic disorders including hereditary neuropathies, neuromuscular disorders, and genetic disorders involving the CNS. There is currently no cure for CMT. However, walking aids and physiotherapy can help relieve symptoms and increase the quality of life. In fact, most patients retain the ability to walk without shortening their life expectancy.

Charcot Marie Tooth Disease Drug Discovery Service

Equipped with world-leading platforms and extensive experience, Creative Biolabs provides one-stop drug discovery service for our clients. From the basic target identification to the final IND-enabling, we can meet all the needs of customers.

Charcot Marie Tooth Disease Drug Discovery Service-CBL

Creative Biolabs offers in vitro and in vivo model development services for neuromuscular disorders. We are specialized in iPSC-derived neurons. Our experienced drug discovery team are dedicated to promote your drug discovery process.

Creative Biolabs is a leading service provider that focuses on neuroscience research. We are confident in offering the best products and services for our clients all over the world. If you are interested in our services and products, please do not hesitate to contact us for more details.


  1. Ydewalle, C.; et al. Charcot-Marie-Tooth disease: emerging mechanisms and therapies. The international journal of biochemistry & cell biology. 2012, 44(8): 1299-1304.
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