Charcot-Marie-Tooth disease

Alternative eponyms

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A syndrome characterized by slowly progressive wasting and weakness of distal muscle of the arms and feet, the commonest disease within a group of conditions called Hereditary Motor and Sensory Neuropathies (HMSN).

Description

Charcot-Marie-Tooth disease, the so-called neural or spinal form of muscular atrophy, is the commonest disease within a group of conditions called Hereditary Motor and Sensory Neuropathies (HMSN).

A syndrome characterized by slowly progressive wasting and weakness of distal muscle of the arms and feet, caused by degeneration of the peripheral nerves, nerve roots, and even the spinal cord, with loss of reflexes, loss of cutaneous sensations and develeopment of foot drop. Optic atrophy is sometimes present.

Usually develops in childhood or adolescence and progresses slowly, but may occur in adults; more common in males than in females. Its cause is unknown. The affected child has normal intelligence, and a normal life span. It is transmitted as an autosomal dominant or recessive trait in some families and as X-linked trait in others. Relatively rare syndrome.

The condition was first described in 1884 by Friedrich Schultze (1848-1934). The classic descriptions of this disorder were published in 1886 by Jean-Martin Charcot and Pierre Marie in France and by Howard Henry Tooth in London, summarizing treatment by Hoffmann in 1889.

With his pupil, Pierre Marie, Charcot in February 1886 described five cases of this progressive muscular atrophy, which was assumed to be caused by myelopathy. This was Charcot's last important contribution to orthodox neurology. The same year Howard H. Tooth delivered his doctoral thesis at the University of Cambridge titled "The peroneal type of progessive muscular atrophy". He emphasised the early atrophy of the peroneus muscle and assumed the condition to be a peripheral neuropathy. Even older reports may be recognised in literature.

Similar cases had previously been reported by Hermann Eulenburg (1814-1902) in 1856, and by Hermann Eichhorst (1849-1921), William Alexander Hammond (1828-190) and Joseph Arderne Ormerod (1848-1925) but the work of Charcot and Marie introduced the new concept that the condition had a neuropathic basis, rather than being a myopathy.

Bibliography

  • J. M. Charcot, P. Marie:
    Sur une forme particulière d'atrophie musculaire progressive, souvent familiale débutant par les pieds et les jambes et atteignant plus tard les mains.
    Revue médicale, Paris, 1886; 6: 97-138.
  • H. H. Tooth:
    The peroneal type of progressive muscular atrophy.
    Dissertation, London. H. K. Lewis, 1886.
  • J. Hoffmann:
    Über progressive neurotische Muskelatrophie.
    Archiv für Psychiatrie und Nervenkrankheiten, 1889, 20: 660. Weitere beiträge zur Lehre von der hereditären progressiven spinalen Muskelatrophie im Kindesalter nebst Bemerkungen übder den fortschreitenden Muskelschwund im Allgemeinen.
    Deutsche Zeitschrift für Nervenheilkunde, 1897, 10: 292-320.

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