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General: Dominant inheritance; onset between 5 and 15 years; rare disease; demonstrates autosomal dominant as well as recessive and X-linked recessive inheritance.
Ocular: Nystagmus; vision reduced if associated with optic nerve involvement; primary optic atrophy (rare).
Clinical: Positive familial history; atrophy of small muscles of hands and feet, slowly progressing to distal and then proximal arm and leg; fibrillary muscle twitchings (fasciculations) are common; cramps are common.
Chance PF, Lupski JR. Inherited neuropathies: Charcot-Marie- Tooth disease and related disorders. Baillieres Clin Neurol 1994; 3:373-385.
Charcot JM, Marie P. Sur one Forme Particuliere d' Atrophie Musculaire Progressive, Souvent Familiale, Debutant par les Pieds et les Jambes, et Atteignant Plus Tard les Mains. Rev Med 1886; 6:97.
Geeraets WJ. Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.
McClain LW. Charcot-Marie-Tooth disease. JAMA 1974; 229:767.
Siegel S. Charcot-Marie-Tooth disease. JAMA 1974; 228:873.
Tooth HH. The peroneal type of progressive muscular atrophy. London: HL Lewis, 1886.
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