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About FSHD Global

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So far FSHD Global has created 64 blog entries.

1998

Identical twins are discovered who have the exact same genetic mutation, but very different symptoms.

19982019-10-02T18:12:46+10:00

1996

FSHD Region Gene 1 (FRG1) is discovered beside the D4Z4

19962019-10-02T18:12:46+10:00

1994

Sequencing of the region associated with FSHD shows that it does contain a gene, but that the D4Z4 region does not.

19942019-10-02T18:12:46+10:00

1993

The region associated with FSHD is found to have multiple repeat units (D4Z4) with FSHD being associated with fewer than 11 D4Z4 units.

19932019-10-02T18:12:46+10:00

1992

FSHD is linked to recombination event that shortens a region in the 4q35 area

19922019-10-02T18:12:46+10:00

1991

FSHD is linked to alterations on the long arm of chromosome 4 near the tip (4q35)

19912019-10-02T18:12:46+10:00

1952

It was not until 1952 that a formal definition of the clinical features of FSHD was developed. This was based on a large family (1249 individuals!) from Utah who were affected by FSHD. The study was the first to describe the inheritance and the term FSHD was coined. [...]

19522019-10-02T18:12:46+10:00

1886

The same physicians publish a paper on FSHD which describes the familial pattern of the condition.

18862019-10-02T18:12:46+10:00

1884

FSHD first described by French physicians Louis Landouzy and Joseph Dejerine.

18842019-10-02T18:12:46+10:00

Emma’s Story

A family perspective - A cure for FSHD would mean Hannah and I can run on a beach together. She could dance and twirl till her heart is content. I hope that one day, she can. Many people in the FSHD community may remember the story of [...]

Emma’s Story2019-10-02T18:12:46+10:00