Facioscapulohumeral Muscular Dystrophy - History

History

Number of FSHD Papers
1900–1950 0
1951–1975 30
1976–1990 133
1991–1996 148
1997–2006 294

FSHD was first described in 1884 by French physicians Louis Landouzy and Joseph Dejerine. In their paper of 1886, Landouzy and Dejerine drew attention to the familial nature of the disorder and mentioned that four generations were affected in the kindred that they had investigated. Formal definition of FSHD's clinical features didn't occur until 1952 when a large Utah family with FSHD was studied. Beginning about 1980 an increasing interest in FSHD led to increased understanding of the great variability in the disease and a growing understanding of the genetic and pathophysiological complexities. By the late 1990s, researchers were finally beginning to understand the regions of Chromosome 4 associated with FSHD.

FSHD is also known by the following names:

  • Landouzy-Dejerine
  • Landouzy-Dejerine syndrome
  • Erb-Landouzy-Dejerine syndrome
  • Landouzy-Dejerine dystrophy or atrophy

Read more about this topic:  Facioscapulohumeral Muscular Dystrophy

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