Emery-Dreifuss Muscular Dystrophy

[Astronuc]

I was listening to a story of a woman who had the generic defect that causes the condition known as Emery-Dreifuss Muscular Dystrophy (EDMD).

Emery-Dreifuss muscular dystrophy (EDMD) is one of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles. It is named for Alan Emery and Fritz Dreifuss, physicians who first described the disorder among a Virginia family in the 1960s.


EDMD is caused by mutations in the genes that produce proteins in the membrane surrounding the nucleus of each muscle cell. EDMD can be inherited several different ways, although symptoms are essentially the same for all inheritance patterns.

https://www.mda.org/disease/emery-dreifuss-muscular-dystrophy
https://www.mda.org/disease/emery-dreifuss-muscular-dystrophy/causes-inheritance

It is apparently very rare - perhaps about 1 in a million (1 ppm) in the population. The woman I mentioned apparently inherited the genetic defect from her father, and her siblings have it as well.

https://www.ncbi.nlm.nih.gov/books/NBK1436/

https://www.uptodate.com/contents/emery-dreifuss-muscular-dystrophy

EDMD is a genetically heterogenous disorder with X-linked recessive, autosomal dominant, and autosomal recessive forms [3]. Several forms are considered nuclear envelopathies because they are associated with pathogenic variants in genes encoding nuclear membrane proteins, including the EMD gene that encodes for emerin, the LMNA gene that encodes for lamin A and lamin C, and the SYNE1 and SYNE2 genes that encode for nesprin 1 and nesprin 2, respectively [4]. The most common type is autosomal dominant EDMD caused by a heterozygous LMNA pathogenic variant, followed by X-linked EDMD caused by EMD or FHL1 pathogenic variants [1]. There are only a few reports of autosomal recessive EDMD. In a high proportion of EDMD cases, the genetic defect remains unknown [5].

The DIY Scientist, the Olympian, and the Mutated Gene
https://www.propublica.org/article/muscular-dystrophy-patient-olympic-medalist-same-genetic-mutation

Early-Onset LMNA-Associated Muscular Dystrophy with Later Involvement of Contracture
https://www.thejcn.com/DOIx.php?id=10.3988/jcn.2017.13.4.405

Emery-Dreifuss Muscular Dystrophy: A Novel Mutation in the LMNA Gene​

https://www.pedneur.com/article/S0887-8994(09)00146-5/abstract

On the same gene is the site of another defect that causes partial lipodystrophy.
https://runningmagazine.ca/uncatego...iep-and-iowa-resident-share-same-mutant-gene/




Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy
https://journals.biologists.com/jcs...utants-found-in-Emery?redirectedFrom=fulltext

Patients with Familial Partial Lipodystrophy of the Dunnigan Type Due to a LMNA R482W Mutation Show Muscular and Cardiac Abnormalities​

https://academic.oup.com/jcem/article-abstract/89/11/5337/2844184

Is there a gene therapy? Apparently there is research ongoing, as with other forms of MD and rare diseases/illnesses.

Novel candidate alleles associated with gene regulation for Emery–Dreifuss muscular dystrophy​

https://pmc.ncbi.nlm.nih.gov/articles/PMC6992946/

https://mdaquest.org/simply-stated-research-updates-in-emery-dreifuss-muscular-dystrophy-edmd/

 

[sbrothy]

Sounds genuinely horrific!