Examining Why Less Than Half of all Who Have Charcot-Marie-Tooth Disease are not Able to Obtain Genetic Confirmation of Their Disease There’s a rare and complex inheritable peripheral neuropathy with a confusing name. Called CMT, the disease is also a neuromuscular disease, and it is difficult to diagnose. Doctors rely on symptoms, family history, specialized testing that looks for abnormalities with how the peripheral nerves transmit their signals (nerve conduction study), and genetic testing. Genetic testing, however, often fails to identify the cause for an individual’s CMT, leaving doctor ..read more

Exploring What Makes SORD-Deficiency CMT So Different from Every Other CMT Subtype, and Discussing Why SORD-Deficiency is CMT "Everyone has high sorbitol. That's part of this disease. We do know that sorbitol level does drive the disease severity. Why is that important? Because, with AT-007 treatment, we're reducing sorbitol levels. So, it's important to know that sorbitol is driving this disease and how high or low your sorbitol levels are makes a difference in terms of how quickly and aggressively the disease will progress." --Shoshana Shendelman, PhD, Founder, Applied Therapeutics Charcot ..read more

Exploring the Burgeoning Question: “What is CMT?” “Why are you wearing shin guards? You play soccer?” “What’s wrong with your hands?” “What’s wrong with your legs?” Etc., Etc., Etc. We all know the drill. The answer to the seemingly never-ending questions involves those three lovely letters, C-M-T. And then, the proverbial follow-up, whether it’s a random person in public or even a healthcare provider, requires us to dig deep in hopes of giving them a straight-to-the-point answer that’ll leave them knowing just enough about our disease to remember the name should they hear it again, all the w ..read more

Unraveling the Confusion and the Chaos of the Many CMT2A Names Science is dynamic, ever evolving, and never sits still. When it comes to CMT, and especially CMT genetics, the science is approaching warp speed. In December 1990, there wasn’t a single known cause of CMT. By Christmas Eve 1993, there were three known causes. By May 1, 1998, there were six genes discovered to have CMT-causing mutations. By the end of 2011, marking the end of the first 20 years of CMT gene discovery, researchers and scientists had discovered 55 genes having CMT-causing mutations. Today, 11 years later, scientists ..read more

Examining the Limitations of Genetic Testing in Charcot Marie Tooth Disease Charcot Marie Tooth disease, or CMT for short, is a heterogeneous group of inherited peripheral neuropathies. CMT is rare, affecting approximately only 3 million people worldwide, but it’s the most commonly inherited peripheral neuropathy. Although CMT symptoms can be treated and well-managed, the disease itself has no known effective treatment or cure. The elusive treatment and cure are a consequence of the ever-expanding catalog of genes discovered to have CMT-causing mutations. Due to this expanding catalog, CMT is ..read more

Exploring The Inheritance Patterns of Charcot-Marie-Tooth Disease Charcot Marie Tooth disease, or CMT for short, is a rare, complex, heterogeneous inheritable peripheral polyneuropathy. Although rare, CMT is the most commonly inherited peripheral nervous system disease. First named for the three physicians who first described the disease in 1886, Jean-Martin Charcot [shahr’kō] (1825-1893), Pierre Marie (1853-1940), both from France, and Howard Henry Tooth (1856-1925) from England, CMT as a modern-day disease name has morphed into an umbrella term that represents a wide variety of inherited se ..read more

Clarifying the Misconceptions of CMT-Related Respiratory Impairment Kenneth Raymond and Ashraf Elsayegh, MD, FCCP, FAASM When the respiratory muscles are affected by CMT, the result is a very specific kind of respiratory impairment. This respiratory impairment, however, is shrouded in misconceptions and misunderstandings that often lead to poor treatment choices and therapeutic outcomes. Charcot-Marie-Tooth Association (CMTA) Advisory Board member and CMT pulmonology expert Ashraf Elsayegh, MD, FCCP, FAASM, Division of Pulmonary/Critical Care, Cedars Sinai Medical Center, Associate Clinical P ..read more

The differences between what the two words represent help us to know which side of the argument is the accurate side. The looming question inherent in the argument is exceedingly easy to answer. Is CMT a type or form of Muscular Dystrophy, does CMT fall under the umbrella of MD, and is CMT classified as MD? The clear-cut easy answer is no, CMT is not any of these things, categorically. Well, then, what is CMT? CMT is many things. CMT is an inheritable peripheral neuropathy. CMT is a genetic neuromuscular disease. CMT is a peripheral polyneuropathy. CMT is a disease of the peripheral nervous s ..read more

What is a Normal Result and What is a CMT Result? One of the best diagnostic tools that doctors have available to them for assisting with diagnosing Charcot Marie Tooth disease is a Nerve Conduction Study. A Nerve Conduction Study, or NCS for short, and sometimes coupled with Electromyogram, or EMG for short, provides a detailed snapshot of the nerve conduction characteristics of each peripheral nerve that the doctor assesses. These tests are part of the electrodiagnostic toolbox. The evaluating doctor chooses which peripheral nerves to assess based on many factors. Typically, when the doctor ..read more

Is the Generations Deep Notion That CMT Can and Does Skip a Generation Fact or Fiction? The Answer is Easy, But The Road Trip to Get There is Not. Wherever there is an appearance of CMT skipping a generation, there is an explanation, even when getting to that explanation requires that we follow a fleeting trail of breadcrumbs. That trail, true to form for CMT, is often complex and confusing. Everything about CMT is complex and inherently confusing. The genetics and inheritance of CMT are no different. Arising from these complexities are many misconceptions. Among these is the notion that CMT ..read more