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Werdnig-Hoffmann syndrome (Johann Hoffmann)

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An infantile familial form of progressive spinal muscular atrophy resulting from degeneration of the anterior horn cells of the spinal cord. Present at birth or onset in newborn in half of cases. It is characterized by early onset, hypotonia and wasting of muscles, complete flaccid paralysis, and death. The clinical picture is that of a floppy infant. Most patients die within the first 3 years of life. In the chronic form the age of onset is usually within first year of life. This form progresses slowly, but the child is usually unable to stand by the age of 10.

Some authors consider this condition identical to amyotonia congenita. It is one of the most common autosomal recessive diseases in childhood, 1 out of 20.000 births, with a carrier frequency of 1 in 60. Sibling involvement is 1 in 4. Transmitted as an autosomal recessive trait. The patient reported by Werdnig in 1891 was an infant named Wilhelm Bauer who developed progressive muscular weakness before dying from respiratory embarrassment when he was 5 years of age.


  • G. Werdnig:
    Zwei frühinfantile hereditäre Fälle von progressiver Muskelatrophie unter dem Bilde der Dystrophie, aber auf neurotischer Grundlage.
    Archiv für Psychiatrie und Nervenkrankheiten, Berlin, 1891, 22: 437-481. Die frühinfantile progressive spinale Amyotrophie.
    Archiv für Psychiatrie und Nervenkrankheiten, Berlin, 1894, 26: 707-744.
  • J. Hoffmann:
    Weitere Beiträge zur Lehre von der progressiven neurotischen Muskeldystrophie.
    Deutsche Zeitschrift für Nervenheilkunde, Berlin, 1891, 1: 95-120. Über chronische spinale Muskelatrophie im Kindesalter auf familiärer Basis.
    Deutsche Zeitschrift für Nervenheilkunde, Berlin, 1893, 3: 427. Weiterer Beitrag zur Lehre von der hereditaren progressiven spinalen Muskelatrophie im Kindesalter nebst Bemerkungen über den fortschreitenden Muskelschwund im Allgemeinen.
    Deutsche Zeitschrift für Nervenheilkunde, 1897, 10: 292-320.

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