Charcot-Marie-Tooth disease (CMT) is a hereditary neurological disorder that affects the peripheral nerves controlling muscle movement and sensation. The disease is named after the three physicians who first identified it: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth. This article will explore the history of CMT and how it received its name.
Discovery of CMT
In 1886, Jean-Martin Charcot, a French neurologist, was studying a patient with a progressive muscle weakness in her arms and legs. He noticed that the patient had high arches and hammer toes, which he hypothesized were related to the muscle weakness. Charcot invited his colleague, Pierre Marie, to examine the patient, and together they described the disease in a paper published in the medical journal, Archives de Neurologie.
In the same year, Howard Henry Tooth, a British neurologist, also described patients with a similar condition in an article published in the journal Brain. Tooth noted that the condition was often inherited and that the affected patients had a distinct foot deformity.
Naming of CMT
The disease was known by various names, including peroneal muscular atrophy and hereditary motor and sensory neuropathy, before it was named after its discoverers. In 1927, the American neurologist, Charles F. McKhann, proposed that the disease be called Charcot-Marie-Tooth disease in honor of the three physicians who first described it.
Charcot, Marie, and Tooth were all prominent figures in the field of neurology, and their contributions to medicine extended beyond the discovery of CMT. Charcot, often referred to as the founder of modern neurology, was a prolific researcher and teacher. Marie made significant contributions to the understanding of syphilis, endocrine disorders, and motor neuron diseases. Tooth, in addition to his work on CMT, studied peripheral nerve injuries during World War I.
Subtypes of CMT
Since the discovery of CMT, several subtypes of the disease have been identified based on genetic mutations that cause the condition. These subtypes are classified based on the specific gene involved, the pattern of inheritance, and the clinical features of the disease. Currently, there are over 100 different genetic mutations that have been associated with CMT, and researchers continue to identify new genes and mutations that cause the disease.
Conclusion
Charcot-Marie-Tooth disease is a hereditary neurological disorder that affects the peripheral nerves controlling muscle movement and sensation. The disease was first described by Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth in 1886, and was later named after the three physicians by Charles F. McKhann in 1927. The disease has since been classified into several subtypes based on genetic mutations.