Facioscapulo-humeral dystrophy: Difference between revisions
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=History= | =History= | ||
* FSHD was first identified in 1884 by French doctors Louis Landouzy and Joseph Dejerine. | *FSHD was first identified in 1884 by French doctors Louis Landouzy and Joseph Dejerine. | ||
*In their 1886 study, Landouzy and Dejerine highlighted that FSHD runs in families, affecting four generations in one family they studied. | *In their 1886 study, Landouzy and Dejerine highlighted that FSHD runs in families, affecting four generations in one family they studied. | ||
*The clinical features of FSHD were officially described in 1952 after studying a large family in Utah. | *The clinical features of FSHD were officially described in 1952 after studying a large family in Utah. | ||
* Interest in FSHD grew from around 1980, leading to a better understanding of how the disease varies and its genetic and physiological complexities. | *Interest in FSHD grew from around 1980, leading to a better understanding of how the disease varies and its genetic and physiological complexities. | ||
* By the late 1990s, researchers began to identify the specific areas of Chromosome 4 linked to FSHD. | *By the late 1990s, researchers began to identify the specific areas of Chromosome 4 linked to FSHD. | ||
*The DUX4 gene was identified in 1999, recognized for its expression and harmful effects in 2007, and in 2010, researchers unveiled the genetic process behind its expression. | *The DUX4 gene was identified in 1999, recognized for its expression and harmful effects in 2007, and in 2010, researchers unveiled the genetic process behind its expression. | ||
* In 2012, scientists pinpointed the gene commonly mutated in FSHD2. | *In 2012, scientists pinpointed the gene commonly mutated in FSHD2. | ||
* By 2019, the initial medication aimed at combating DUX4 expression commenced clinical trials. | *By 2019, the initial medication aimed at combating DUX4 expression commenced clinical trials. | ||
**FSHD is also called: | **FSHD is also called: | ||
Revision as of 17:52, 11 May 2024
| Facioscapulo-humeral dystrophy |
History
- FSHD was first identified in 1884 by French doctors Louis Landouzy and Joseph Dejerine.
- In their 1886 study, Landouzy and Dejerine highlighted that FSHD runs in families, affecting four generations in one family they studied.
- The clinical features of FSHD were officially described in 1952 after studying a large family in Utah.
- Interest in FSHD grew from around 1980, leading to a better understanding of how the disease varies and its genetic and physiological complexities.
- By the late 1990s, researchers began to identify the specific areas of Chromosome 4 linked to FSHD.
- The DUX4 gene was identified in 1999, recognized for its expression and harmful effects in 2007, and in 2010, researchers unveiled the genetic process behind its expression.
- In 2012, scientists pinpointed the gene commonly mutated in FSHD2.
- By 2019, the initial medication aimed at combating DUX4 expression commenced clinical trials.
- FSHD is also called:
- Landouzy-Dejerine Disease
- Landouzy-Dejerine syndrome
- Erb-Landouzy-Dejerine syndrome
- Landouzy-Dejerine dystrophy or atrophy
- FSHD is also called:
Classification
Synonyms and related keywords: Facio-Scapulo-Humeral Dystrophy, FSH, FMD, FSHD, Muscular Dystrophy, Facioscapulohumeral, Muscular Dystrophy, Landouzy Dejerine
Facioscapulohumeral muscular dystrophy (FSHD), also known as Landouzy-Dejerine muscular dystrophy, is a neuromuscular disorder.
- Facial weakness is the initial manifestation with inability to smile, whistle, etc.
- Shoulder muscles are weak with scapular “winging” during arm abduction.
- Biceps / triceps are involved with sparing of the deltoids.
- 20% progress to involve the pelvic girdle.
- Labile hypertension, ocular involvement (Coat’s disease) and deafness can occur.
Facioscapulohumeral muscular dystrophy is usually inherited as an autosomal dominant trait. However, in up to approximately 30 percent of affected individuals, there is no apparent family history of the disorder.