Erb-Goldflam syndrome
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Syndrome characterized by ptosis, strabismus, occasionally by complete ophthalmoplegia externa, weakness of masticatory muscles, dysphagia, dysphonia, and general muscular exhaustion after slight activity. Occurs in both sexes at any age, with a male to female ratio of 1:2, most commonly with onset in early middle age. It is due to the presence of circulating antibodies to acetylcholine receptor (AchR) and faulty synaptic transmission at the myoneural junction. Initially, the symptoms may last for short periods, then disappear, to return a few weeks later, becoming more pronounced. Mastication and swallowing difficulty may lead to weight loss. Weakness of neck muscles occurs in advanced stages. Death usually takes place within 2 years.
A small number of neonatal cases born of myasthenic mothers have been reported. Most frequent in females 20 to 40 years of age. Autoimmune disorder of unknown aetiology.
This condition was first described by Thomas Willis (1621-1675) in 1672, and Sir William Richard Gowers (1845-1915) reported the features of a typical case in his Manual in 1886-1888.
Bibliography
- T. Willis:
De anima brutorum, quae hominis vitalis ac sensitiva est, excertitatione duae, prior physiologica, altera pathologica.
Oxford, 1672; London, 1672; Amsterdam, 1672. - W. Erb:
Ueber einen eigenthümlichen bulbären ? Symptomenkomplex.
Archiv für Psychiatrie und Nervenkrankheiten, Berlin, 1879, 9: 172-173. - W. Erb:
Zur Casuistick der bulbären Lähmungen.
Archiv für Psychiatrie und Nervenkrankheiten, Berlin, 1879, 9: 325-350. - W. R. Gowers:
A Manual of Diseases of the Nervous System.
2 volumes. London, 1886. - H. G. Hoppe:
Ein Beitrag zur Kenntnis der Bulbärparalyse.
Berliner klinische Wochenschrift, 1892, 29: 332-336. - S. Goldflam:
Über einen scheinbar heilbaren bulbärparalytischen Symptomen-complex mit Betheiligung der Extremitäten.
Deutsche Zeitschrift für Nervenheilkunde, 1893, 4: 312-352.