Abstract
Proximal spinal muscular atrophy (SMA) is a rare progressive, life limiting genetic motor neuron disease. While promising causal therapies are available, meaningful prognostic biomarkers for therapeutic monitoring are missing. We demonstrate handheld Multispectral Optoacoustic Tomography (MSOT) as a novel non-invasive imaging approach to visualize and quantify muscle wasting in pediatric SMA. While MSOT signals were distributed homogeneously in muscles of healthy volunteers (HVs), SMA patients showed moth-eaten optoacoustic signal patterns. Further signal quantification revealed greatest differences between groups at the isosbestic point for hemoglobin (SWL 800 nm). The SWL 800 nm signal intensities further correlated with clinical phenotype tested by standard motor outcome measures. Therefore, handheld MSOT could enable non-invasive assessment of disease burden in SMA patients.
Highlights
Spinal muscular atrophy (SMA) is a severe neuromuscular disease caused by a homozygous deletion or mutation in the survival motor neuron 1 gene on chromosome 5q, resulting in insufficient expression of the survival motor neuron (SMN) protein 1
We present the first diagnostic case-control proof-of-concept study for handheld Multispectral Optoacoustic Tomography (MSOT) imaging to visualize and quantify muscle changes and disease burden in pediatric patients with SMA type I-III
10 healthy volunteers (HV) were gender and age matched to 10 SMA patients
Summary
Spinal muscular atrophy (SMA) is a severe neuromuscular disease caused by a homozygous deletion or mutation in the survival motor neuron 1 gene on chromosome 5q, resulting in insufficient expression of the survival motor neuron (SMN) protein 1.
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