Mastodawn

For more than two decades, researchers at the University of Basel have been investigating a severe form of muscular #dystrophy in which #muscles progressively degenerate. The research team has now discovered that the muscles’ ability to regenerate is also impaired.
#Biomedical #Genetics #MD #sflorg
https://www.sflorg.com/2025/12/bmed12012501.html

Congenital muscle weakness: Muscles fail to regenerate

LAMA2-related muscular dystrophy caused by genetic defect

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🆘Bill Cole 🇺🇦Jun 7, 2025

@punishmenthurts @filmfreak75 @actuallyautistic @autistics A researcher investigated comorbidity between myotonic #dystrophy and #autism, and they found a gene where a particular mutation results in mis-splicing of multiple other proteins coded by other genes, some of which also have autism correlations.
Like so many overhyped biochem discoveries, this isn’t the silver bullet discovery implied by the headline. Like the MANY other genes involved w/ASD, it helps to understand its biochem roots.

Scientific Frontline Feb 21, 2024

#Myotonic #dystrophy 2 (DM2) is a form of muscular dystrophy, a disease that leads to progressive muscle degeneration. It is caused by the expansion of a repetitive #DNA sequence containing multiple CCTG bases in the CNBP gene. In general, the sequence of nucleobases in the DNA carries the genetic information.
#Medical #Biology #sflorg
https://www.sflorg.com/2024/02/med02212402.html

False Alarm of the Immune System during Muscle Disease

Myotonic dystrophy 2 (DM2) is a form of muscular dystrophy, a disease that leads to progressive muscle degeneration

Anthony Dec 11, 2023

This is a long shot, but I wonder whether anyone who sees this knows of good resources for people with one of the macular dystrophies (Stargardt disease, OMD, other). I am looking for information on macular dystrophy specifically, not macular degeneration, which is different (please do not send me macular degeneration resources). I'd appreciate signal boosts--thank you!

#macular #dystrophy #stargardt #retinaldegeneration

Thiago Carvalho Jun 26, 2023

Last Thursday, the FDA voted to approve Sarepta's microdystrophin gene therapy for #Duchenne muscular #dystrophy.
https://www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapy-treatment-certain-patients-duchenne-muscular-dystrophy

This was not an easy call, made on the basis of a biomarker rather than efficacy data. I wrote about it last month for Nature Medicine.

#genetherapy #drugdiscovery #drugdevelopment

https://www.nature.com/articles/d41591-023-00052-4

FDA Approves First Gene Therapy for Treatment of Certain Patients with Duchenne Muscular Dystrophy

U.S. Food and Drug Administration

Scientific Frontline Jun 17, 2023

It’s not easy to distinguish between the dozens of #subtypes of limb girdle #muscular #dystrophy — a rare, #genetic muscle #disease characterized by weakness in the hips and shoulders that causes difficulty walking and lifting the arms. Until now. . .
#Medical #sflorg
https://www.sflorg.com/2023/06/med06172302.html

Diagnosis of rare, genetic muscle disease improved by new approach

dozens of subtypes of limb girdle muscular dystrophy

Gerion Dec 6, 2022

Going uner the knife tomorrow morning for a cornea transplant to treat Fuchs' Dystrophy. Grateful for modern medicine.

#surgery, #endothelial, #keratoplasty, #cornea, #transplant, #DMEK, #fuchs, #dystrophy, #ophthalmology