CMT History Part 1

[Guest guest]

CMT did not 'begin' in France. But the first neurologist to give a CMT a name

was French. Below is some CMT history, although it is now a decade old.

http://users.rcn.com/smith.ma.ultranet/history.html

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-

Charcot (1825-1893), Pierre Marie (1853-1940) and 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, 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. Dyck and 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, 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., , 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, , 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.

, 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