Duchenne's syndrome

Nuclear amyotrophy resulting in chronic bulbar paralysis, which may represent early manifestations of amyotrophic lateral sclerosis. Symptoms include gradually increasing dysphagia, progressive speech defect, from minor defect in articulation to the production of incomprehensible sound (laryngeal). Weakness and spasticity of the muscles of the pharynx, larynx, and tongue, spasticity of extremity muscles; hyperreflexia. Loss of emotional control with episodes of sudden laughing and crying. The onset is often between 50 and 60 years of age.

Duchenne first described this condition in 1861 as «primary labioglossolaryngeal paralysis». The title «progressive bulbar paralysis» was suggested by Adolph Wachsmuth (1827-1865) in 1864, and Jean Martin Charcot contributed the description of its characteristic pathology in 1870.

The Fazio-Londe syndrome is a very rare, juvenile and probably autosomal recessive form.

• G. B. Duchenne:
  Paralysie musculaire progressive de la langue, du voile, du palais et des lèvres: Affection non encore décrite comme espèce morbide distincte.
  Archives générales de médecine, Paris, 1860, 16: 283-296.
• A. Wachsmuth:
  Ueber progressive Bulbär-Paralyse (Bulbus medullae) und die Diplegia facialis. Dorpat, Gläser, 1864.
• J. M. Charcot, Alex Joffroy (1844-1908):
  Une observation de paralysie infantile s’accompagnement d’une altération des cornes antérieures de la substance grise de la moëlle.
  Comptes rendus de la Société de biologie, Paris, (1869), 1870, 5 sér., 1: 312-315.
• Berger, in:
  Schlesische Gesellschaft für vaterländische Cultur, Berlin.
  Klinische Wochenschrift, Berlin, 1876, 13: 234.
• E. Fazio:
  Ereditarietá della paralisi bulbare progressiva. Riforma medica, 1892, 8: 327.
• P. Londe:
  Paralysie bulbaire progressive, infantile et familiale.
  Revue médical de Paris, 1893, 13: 1020-1030. Paralysie bulbaire progressive infantile et familiale.
  Revue médical de Paris, 1894, 15: 212-254.