CMT History
Last updated: 1/18/1998
Naming CMT and the race to publish first
Charcot-Marie-Tooth syndrome is named after three doctors: Jean-Martin Charcot (1825-1893), Pierre Marie (1853-1940) and Howard H. Tooth (1856-1926).
Charcot
Charcot is a famous French neurologist who has been called the Father of Neurology. He is credited with identifying: Amyotrophic Lateral Sclerosis (ALS), also called Charcot's disease; Charcot Foot, or more generally Charcot Joint, a condition most often associated with diabetics; and other diseases. At one point in time, ALS, Multiple Sclerosis (MS) and CMT were collectively called Charcot's disease, but the name Charcot's disease is now used exclusively to describe ALS.
Marie
Dr. Pierre Marie was a pupil Charcot's, who worked with Charcot at la Salpétrière, an asylum in Paris. Drs. Charcot and Marie published their findings in February 1886 in Sur une forme particulière d'atrophie musculaire progressive, souvent familial, débutant par les peids et les jambes et atteignant plus tard les mains. Pevue de Médecine, Paris, volume 6, pages 97-138. A translation of the title is "Concerning a Special Form of Progressive Muscular Atrophy Often Familial, Starting in the Feet and Legs, and later Reaching the Hands."
Tooth
At the same time, Howard H. Tooth was working on his thesis for the MD degree at Cambridge University in England. His thesis was titled: The Peroneal Type of Progressive Muscular Atrophy, London: H. K. 1886. Although Tooth's thesis was not published until three months after the paper by Charcot and Marie, Tooth's work was almost completed at the time the article was published by Drs. Charcot and Marie.
Charcot-Marie vs. Charcot-Marie-Tooth
The syndrome was called Charcot-Marie disease for several years after the two French doctors. Tooth's name was included because of his contributions and simultaneous efforts. Hence the name Charcot-Marie-Tooth. However, anyone needing to find journal articles on the disorder in the MEDLINE directory of medical journal articles, will have to search for the disorder by the name Charcot-Marie.
Immortality! Who published first?
The papers by Drs. Charcot, Marie and Tooth were published in 1886. But they were not the first to publish information about this syndrome. As Brody and Wilkens write, "The credit for discovering a new disease is often given not to the one who describes it first, but to the one who describes it when the time is ripe. ... in 1886 medical knowledge had advanced sufficiently to accept this entity ... The simultaneous publications by Charcot and Marie in France and by Tooth in England do not attest to coincidence but to the fact that the medical world was ready to appreciate the finer clinical distinctions existing within the large group of progressive muscular atrophies." [Brody, Wilkens]
The earliest published articles an CMT were published by Rudolph Virchow in 1855, and possibly by Aran, also in 1855. Several, other authors published their findings before Charcot, Marie and Tooth. These authors included Eulenberg, Friedreich and Eichorst.
PMA and PMA
The earlier articles discussed muscular atrophy, distal muscular atrophy, or Progressive Muscular Atrophy (PMA), terms that include CMT and muscular and neurological diseases. Charcot and Marie described a progressive form of muscular atrophy. Tooth's thesis describes a peroneal type of progressive muscular atrophy, or more simply peroneal muscular atrophy. The reason the medical community included Tooth's name in the name of the disease was because of his additional contribution to identifying the disease. Charcot and Marie thought that the disease might be due to a problem in the spine. Tooth identified the cause as originating in the peroneal nerves. The term Peroneal Muscular Atrophy (also abbreviated PMA) was a common name used to describe CMT for the next 100 years. Through 1989, the CMT Association was called the National Foundation for Peroneal Muscular Atrophy.
Hoffman Disease and Charcot-Marie-Tooth-Hoffman Disease
In 1912, Hoffman identified a case of peroneal muscular atrophy with thickened nerves. This disease was referred to as Hoffman's disease, and later as Charcot-Marie-Tooth-Hoffman's disease.
A Syndrome
CMT is not a single disease, it is a collection of diseases with similar signs (as identified by the doctor and lab tests), and symptoms (as identified by the patient). This is referred to as a syndrome. The diseases included in PMA or CMT have changed over the years, and continue to change. Nerve conduction studies were used since the 1950 to separate CMT into types. CMT-1 is the hypertrophic form involving segmental demyelination and remyelination of the peripheral nerves. With CMT-1, there is a marked slowing in the nerve conduction velocity of the peripheral nerves. CMT-2 involves nerve axonal degeneration. It is called the neuronal or axonal form of CMT. It involves a near normal nerve conduction velocity but a decrease in the signal amplitude. CMT has been further subdivided based upon the genetic cause of the disease. With the advent of genetic testing, it will eventually be possible to sort out all the different diseases that fall under the heading of CMT syndrome.
Roussy-Lévy Syndrome
In 1926, Roussy and Lévy reported on a similar disease that also included tremors. It was questioned from the start whether this was a separate disease. Roussy-Lévy syndrome is also called CMT with essential tremor.
Dejerine-Sottas Disease
In France in 1893, Dejerine and Sottas reported on a case with thickening (i.e., hypertrophic) peripheral nerves called hereditary hypertrophic neuropathy or Dejerine-Sottas Disease. There was much discussion as to whether this was a separate disease then CMT.
HMSN: CMT and related diseases
In 1927, Dawidenkow classified the known neuro muscular atrophies, including CMT. In the 1960s, Drs. Peter Dyck and Edward Lambert began repeatedly modifying this classification. They eventually developed a characterization with seven subtypes called Hereditary Motor and Sensory Neuropathies (HMSN, also occasionally abbreviated HSN). The name HMSN is more commonly seen in European journal articles. CMT type 1 is a form of HMSN I, and CMT type 2 is a form of HMSN II.
Earlier attempts to classify these diseases by Dyck and Lambert in the 1960s yielded:
- Type I: Hypertrophic neuropathy including: the hypertrophic form of CMT (e.g., CMT-1) and Dejerine-Sottas disease.
- Type II: neuronal for of PMA including CMT-2
- Type III: distal progressive spinal muscular atrophy
In the 1970's, Dyck and Lambert revised their classification as follows:
- HMSN I: Hypertrophic inherited neuropathies including: the hypertrophic form of CMT (i.e., CMT-1), Roussy-Lévy Syndrome, and the CMT cases described by Hoffman
- HMSN II: neuronal form of CMT (i.e., CMT-2)
- HMSN III: Dejerine-Sottas disease
- HMSN IV: Refsum disease (an inherited neuropathy resulting from low phytanic acid)
- HMSN V: HMSN with spastic paraplegia
- HMSN VI: HMSN with optical atrophy
- HMSN VII: HMSN with retinitis pigmentosa
What in a name?
The medical understanding of diseases is constantly changing. The names themselves change as does the classification schemes. Different communities can have different names for the same disease. Additional information can bring further subtyping, or combine what was previously thought of as different diseases. If information is needed about a disease, it is important to know the history in order to find all relevant documents, and to discard irrelevant documents.
References
[Brody, Wilkens] Brody, Irwin A., Wilkens, Robert H., Charcot-Marie-Tooth Disease, Arch Neurol, 17, November 1967, 552-557.
Dyck, P.J., Inherited neuronal Degeneration and Atrophy Affecting Peripheral Motor, Sensory, and Autonomic Neurons, Chapter 69 in Diseases of the Peripheral Nervous System, 1600-1665.
Dyck, P.J., Lambert, E.H., Lower Motor and Primary Sensory Nerve Diseases with Peroneal Muscular Atrophy I: Neurologic, genetic and electrophysiological findings in hereditary polyneuropathies., Archives of Neurology, 18:603-618, 1968.
Dyck, P.J., Lambert, E.H., Lower Motor and Primary Sensory Nerve Diseases with Peroneal Muscular Atrophy II: Neurologic, genetic and electrophysiological findings in various neuronal degenerations., Archives of Neurology, 18:619-625, 1968.
Harding, A.E., Thomas, P.K., The Clinical Features of Hereditary Motor and Sensory Neuropathy Types I and II, Brain, 103:259-280, 1980.
Hosking, Gwilym, Peroneal Muscular Atrophy, Developmental Medicine and Child Neurology, 386-390, 1980.
Sabir, Munawar, Lyttle, David, Pathogenesis of Charcot-Marie-Tooth Disease: Gait Analysis and Electrophysiologic, Genetic, Hispathologic, and Enzyme Studies in a Kinship, Clinical Orthopaedics and Related research, 223-235, 1984.
Thomas, P.K., Charcot-Marie-Tooth Disease - Historical Perspective and Overview, published in Charcot-Marie-Tooth Disorders: A Handbook for Primary Care Physicians, Charcot-Marie-Tooth Association, 1-4, 1995.
Glossary
| demyelination | (v.) | process of losing myelin from around the nerve fiber |
| disease | (n.) | response to injury of illness; a disorder with a specific cause and recognizable signs and symptoms |
| disorder | (n.) | a disturbance to normal physical or mental health or function |
| distal | (adj.) | far from the center |
| familial | (adj.) | occuring among members of a family |
| hypertrophic | (n.) | increase in the size of an organ |
| myelin | (adj.) | fatty material enclosing the nerve fiber |
| peroneal | (adj.) | pertaibning to the fibular side (outside) of the body |
| neuropathy | (n.) | any noninflammatory disease of peripheral nerves |
| peripheral | (adj.) | perimeter or outermost region |
| remyelination | (v.) | process of encapsulating the nerve fiber with myelin |
| syndrome | (n.) | a combination of signs and symptoms that form a distinct clinical picture |
| sign | (n.) | an indication that is observed by the doctor, or measured, but not apparent to the patient |
| symptom | (n.) | an indication of a disease or disorder noticed my the patient himself |
Acronyms
| ALS | Amyotrophic Lateral Sclerosis |
| CM | Charcot-Marie syndrome or Charcot-Marie-Tooth (CMT) syndrome |
| CMT | Charcot-Marie-Tooth syndrome |
| HMSN | Hereditary Motor and Sensory Neuropathies |
| HSN | Hereditary Sensory Neuropathies or Hereditary Motor and Sensory Neuropathies (HMSN) |
| MS | Multiple Sclerosis |
| PMA | Peroneal Muscular Atrophy |
| PMA | Progressive Muscular Atrophy |
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