The Dorsal Root

CMT at Your Fingertips

“Close-up of a human hand reaching toward a glowing DNA double helix with connected nerve structures in the background, symbolizing the link between genetics and peripheral nerve function. A holographic outline of a lower leg and foot appears in the distance, representing Charcot-Marie-Tooth disease research.”

Nerves talk. We listen. CMT’s within reach.

The Dorsal Root offers unique perspectives on CMT’s science and the people behind it. Informed, clear, and always within reach.

CLEAR
Close-up of a doctor’s hand holding a prescription pad while a patient’s wrist is wrapped with metal chains.

When Medicine Lost Its Compass

Evidence failed not because it was wrong, but because it was weaponized. I lived the downstream effects of that failure for more than a decade. This is what happens when medicine forgets that data always ends in a human being.
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Illustrated graphic showing large ‘404’ numerals with people interacting with data screens and servers, alongside text reading ‘CMT Genetic Testing Error 404: Gene Not Found’ and ‘Examining Why Less Than Half of All Who Have Charcot-Marie-Tooth Disease Are Not Able to Obtain Genetic Confirmation of Their Disease.

Error 404: Gene Not Found

CMT genetic testing often fails to identify the cause of the disease, even when comprehensive panels are used. Here, we discuss why this happens, what genetic tests can and cannot do, and why a negative result still matters.
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Illustrated cover graphic showing a split landform with branching directional arrows, two people with question marks above their heads, and the title ‘SORD Deficiency: Decoding This Newly Discovered and Confusing CMT Subtype.

CMT-SORD: What Is This Unique CMT Subtype?

CMT-SORD is a newly discovered CMT subtype driven by toxic sorbitol accumulation. This article explains how "SORD" works, why this subtype is different, and how it led to the fastest-moving therapeutic program in CMT history.
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Person standing against a plain background with raised shoulders and palms up in a shrugging gesture.

We All Know the Drill

“What is CMT?” sounds like a simple question, but the answer is different for every person who lives with it. This article explores why no single definition can fully capture CMT.
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Person sitting on a chair facing a wall covered with chalk-like lines and question marks.

The Story of the 2A Confliction

CMT2A has been known by several different names over the years, creating widespread confusion for patients and clinicians alike. Here, we discuss how the confusion happened, what was corrected, and what the name CMT2A means today.
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A scientist wearing safety glasses and gloves is looking through a microscope in a laboratory.

Pushing the Limits

CMT genetics are expanding faster than diagnostic testing can keep up. This article examines how gene discovery transformed our understanding of CMT, why genetic confirmation remains elusive for many, and where the science is headed next.
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Group of people sitting on grass gathered around a large paper map, pointing and discussing directions.

Where’d It Come From? Where’s It Going?

CMT is often described as a single disease, but genetically it is anything but. From autosomal and X-Linked inheritance to de novo and mitochondrial mutations, this piece explains how CMT begins, how it’s passed on, and why family history doesn’t always tell the full story.
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Healthcare professional holding a digital illustration of human lungs with airway details.

CMT Respiratory Involvement: What It Is and What It Is Not

When CMT affects breathing, the problem is not lung disease. Coauthored with Dr. Elsayegh, this article explains how CMT can cause neuromuscular respiratory muscle weakness for some, why it is often misdiagnosed as restrictive lung disease, and how proper diagnosis changes treatment.
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Healthcare professional holding a tablet with floating question mark icons over a digital network background.

Atrophy vs. Dystrophy: Is CMT Really MD?

CMT is frequently associated with the Muscular Dystrophy Association (MDA), leading some to assume it is a form of muscular dystrophy. This article explains why that assumption is incorrect and how CMT is properly classified.
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Person jumping between two red rock formations in a desert landscape under a blue sky.

Does CMT Skip a Generation? Can It?

The idea that CMT skips a generation is a misconception rooted in complex inheritance patterns. This article explains how dominant, recessive, X-Linked, and de novo mutations interact, and why CMT doesn't skip a generation.
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Open metal padlock lying on a flat surface with keys still attached.

Brace Yourself

In Charcot-Marie-Tooth disease, everything starts at the feet. This piece explains why foot and ankle instability affects the entire body, how proprioception and muscle fatigue factor in, and why properly selected AFOs can restore alignment, reduce pain, and improve function far beyond just preventing falls.
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