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Satellite Stem Cells and Muscular Dystrophy

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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: Jan 18, 2026

Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy

Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy

Published on: January 12, 2019

Antenatal Ultrasound Findings in Spinal Muscular Atrophy Type 0.

Stephanie Stokes¹, Madeline Snipes², Lee D Moore³

¹Department of Obstetrics and Gynecology, Augusta University, Augusta, Georgia, USA.

Molecular Genetics & Genomic Medicine

|September 9, 2025

Summary

This summary is machine-generated.

Spinal muscular atrophy (SMA) type 0 in fetuses with one SMN2 copy presents unique prenatal findings. Key indicators include cardiac defects, increased nuchal translucency, and reduced fetal movement, suggesting the need for SMA testing.

Keywords:

antenatal ultrasound fetal cardiac anomalies genetic screening prenatal diagnosis severe spinal muscular atrophy spinal muscular atrophy type 0

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Area of Science:

Genetics and Molecular Biology
Prenatal Diagnosis
Pediatric Neurology

Background:

Spinal muscular atrophy (SMA) is a genetic disorder caused by SMN gene variants, leading to infant mortality.
Previous studies on fetal SMA prenatal findings are inconsistent, potentially due to not considering SMN2 copy number.

Purpose of the Study:

To analyze distinct prenatal findings in severe SMA type 0.
To correlate prenatal sonogram findings with SMN2 copy number.

Main Methods:

Case report of a neonate with SMA type 0 (0SMN1/1SMN2 genotype).
Review of prenatal findings including hypoplastic left heart syndrome, AV block, nuchal translucency, and polyhydramnios.
Literature search for prenatal findings in 32 cases of SMA type 0.

Main Results:

Common associations in SMA type 0 include cardiac defects, increased nuchal translucency, and decreased fetal movement.
Other findings include nonvertex presentation, polyhydramnios, and postnatal contractures/fractures.
The case presented with HLHS, AV block, thickened nuchal translucency, and polyhydramnios.

Conclusions:

Prenatal onset SMA type 0 with one SMN2 copy has a distinct phenotype.
Frequent prenatal indicators are cardiac anomalies, increased nuchal translucency, and decreased fetal movement.
These findings warrant SMA genetic testing.