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Related Concept Videos

Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

903
The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
903

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Related Experiment Video

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Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
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Macrostructural Brain Abnormalities in Spinal Muscular Atrophy: A Case-Control Study.

Emilie Groulx-Boivin1, Andrea Oliveira-Carneiro1, Helen Carlson1

  • 1From the Departments of Pediatrics and Neurology and Neurosurgery (E.G.-B., M.O.), Montreal Children's Hospital, McGill University; Research Institute (A.O.-C., M.O.), McGill University Health Centre, Montreal, Quebec; Alberta Children's Hospital Research Institute (H.C., A.F., A.K., J.M.); Department of Pediatrics (H.C., A.F., A.K., J.M.), Cumming School of Medicine, University of Calgary, Alberta; Division of Pediatric Medical Imaging (C.S.-M.), Department of Radiology, Montreal Children's Hospital; Department of Neurology and Neurosurgery (R.L.P.), Montreal Neurological Institute; and Department of Diagnostic Radiology (R.L.P.), McGill University, Montreal, Quebec, Canada.

Neurology. Genetics
|September 23, 2024
PubMed
Summary
This summary is machine-generated.

Individuals with spinal muscular atrophy (SMA) show more brain abnormalities on MRI scans than healthy peers, indicating central nervous system involvement. This finding may lead to new therapies and rehabilitation strategies for SMA patients.

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Area of Science:

  • Neuroimaging
  • Neurology
  • Genetics

Background:

  • Spinal muscular atrophy (SMA) often results in chronic motor impairment despite disease-modifying therapies.
  • Understanding central nervous system (CNS) involvement in SMA is crucial for developing effective adjunctive treatments.
  • Brain abnormalities in SMA patients may offer new therapeutic targets.

Purpose of the Study:

  • To characterize macrostructural brain abnormalities in individuals with SMA using MRI.
  • To compare brain MRI findings in SMA patients with age- and sex-matched healthy controls.

Main Methods:

  • A cross-sectional case-control study involving 21 individuals with 5q SMA and 21 controls.
  • Standardized 3T brain MRI scans were analyzed for macrostructural changes.
  • Lateral ventricular volumes were quantified, and correlations with genetic and clinical variables were assessed.

Main Results:

  • 43% of SMA patients exhibited macrostructural brain abnormalities, compared to 10% of controls (OR 7.1).
  • Common abnormalities in SMA included widened arachnoid spaces and ventriculomegaly.
  • SMA patients had significantly larger lateral ventricular volumes than controls (p=0.034).

Conclusions:

  • Individuals with SMA demonstrate a higher prevalence of macrostructural brain abnormalities, suggesting CNS involvement.
  • These neuroimaging findings underscore the importance of considering CNS-targeted therapies and rehabilitation strategies for SMA.
  • Further research into brain architecture in SMA can optimize patient outcomes.