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Aran-Duchenne spinal muscular atrophy

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Condition characterized by chronic progressive wasting of muscles with subsequent weakness and paralysis. The upper extremity is most commonly involved. It begins as weakness of small muscles of the hand, followed by stiffness, clumsiness, and cramps. The muscles supplied by the fift cervical nerves and the extensor hallucis longus are the first ones to be affected. The principal clinical features include muscular fasciculation, simian hand (eventually becoming ”cadaveric hand”), round-shouldered posture, forward drop of the head, drop foot, steppage gait, and dyspnea.

Caused by degeneration of the anterior horn cells of the spinal cord. Occasionally the bulbar nuclei of the brain are involved. A variant of amyotrophic lateral sclerosis with a relatively benign course. A variety of conditions may lead to the development of this disease: infections, avitaminosis, or toxins.

The slimness of the anterior roots was first noticed by Cruveilhier and was thought to be the essential lesion until Jules Bernard Luys (1828-1897) in 1860 reported degeneration of the anterior horn cells. Aran fully recognized the work of Duchenne.

Bibliography

  • G. B. A. Duchenne:
    Recherches faites à l’aide du galvanisme sur l’état de la contractilité et de la sensibilité électro-musculaires dans les paralysies des membres supérieures.
    Comptes rendus de l’Académie des sciences, Paris, 1849, 29: 667-670. Étude comparée de lésions anatomiques dans l'atrophie musculaire progressive et dans la paralysie générale.
    Union médicale, Paris, 1853, 7: 202.
  • F. A. Aran:
    Recherches sur une maladie non encore décrite du système musculaire (atrophie musculaire progréssive).
    Archives générales de médecine, Paris, 1850, 24: 172-214.
  • J. Cruveilhier:
    Sur la paralysie musculaire progressive atrophique.
    Bulletin de l’Académie de médecine, Paris, 1853, 18: 490-502.
  • J. B. Luys:
    Atrophie musculaire progressive. Lésions histologiques de la substance grise de la moëlle épinière.
    Gazette médicale de Paris, 1860, 3 sér., 15: 505.

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