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Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...

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Updated: Sep 11, 2025

Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides

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Evidence Regarding Duchenne Muscular Dystrophy Newborn Screening.

Alex R Kemper¹, Wendy K K Lam², Jelili Ojodu³

¹Nationwide Children's Hospital, Division of Primary Care Pediatrics.

|August 12, 2025

Summary

This summary is machine-generated.

Newborn screening for Duchenne muscular dystrophy (DMD) is gaining traction. Early detection through creatine kinase (CK-MM) testing can identify genetic variants, potentially improving outcomes for this progressive neuromuscular disorder.

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Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy

Published on: May 24, 2016

Area of Science:

Genetics
Neuromuscular Disorders
Public Health

Background:

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked genetic disorders caused by variants in the DMD gene.
DMD affects approximately 2 in 10,000 newborn males, leading to progressive muscle weakness and premature death, often from respiratory or cardiac issues.
The average diagnostic age in the US is 4.5-5 years, prompting advocacy for newborn screening (NBS) due to the availability of targeted therapies and the challenges of the diagnostic odyssey.

Purpose of the Study:

To review the current landscape and rationale for implementing newborn screening for Duchenne muscular dystrophy.
To discuss the diagnostic methods, challenges, and potential benefits of early identification through NBS.
To contextualize NBS within the evolving treatment paradigms for DMD.

Main Methods:

Review of existing literature and advocacy for DMD NBS.
Description of the biochemical marker (creatine kinase, CK-MM) used in screening.
Explanation of confirmatory molecular genetic analysis for DMD and BMD variants.

Main Results:

Caregiver studies indicate support for DMD NBS.
Ohio and Minnesota have implemented DMD NBS, with other states considering it.
Screening accuracy is dependent on the employed testing algorithm.

Conclusions:

Newborn screening for DMD offers the potential for earlier diagnosis and intervention.
While treatments like glucocorticoids, gene therapy, and exon-skipping medications exist, their optimal use and definitive clinical benefits are still under investigation.
Early identification via NBS is crucial for maximizing the potential benefits of emerging therapies for DMD.