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Related Concept Videos

Injecting Recombinant Adeno-Associated Vectors in a Spinal and Bulbar Muscular Atrophy Mouse Model02:44

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Source:Pourshafie, N., et al. Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents. J. Vis. Exp. (2018).In this video, a spinal and bulbar muscular atrophy or SBMA-affected mouse undergoes tail vein injection of recombinant AAV (Adeno-associated vectors) vectors carrying a plasmid encoding therapeutic microRNA. The vector produces microRNA that binds to mutant AR (Androgen receptor)-mRNA (messenger ribonucleic acid),...
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Related Experiment Video

Updated: Jan 20, 2026

Injecting Recombinant Adeno-Associated Vectors in a Spinal and Bulbar Muscular Atrophy Mouse Model
02:44

Injecting Recombinant Adeno-Associated Vectors in a Spinal and Bulbar Muscular Atrophy Mouse Model

Published on: August 7, 2025

406

Bulbar Problems Self-Reported by Children and Adults with Spinal Muscular Atrophy.

A M B van der Heul1, C A Wijngaarde1, R I Wadman1

  • 1Department of Neurology and Neurosurgery, University Medical Center Utrecht, Brain Center Rudolf Magnus, Utrecht, the Netherlands.

Journal of Neuromuscular Diseases
|September 3, 2019
PubMed
Summary

Patients with spinal muscular atrophy (SMA) frequently experience bulbar issues like choking and fatigue during chewing. Older individuals with milder SMA types report more problems, impacting speech and swallowing.

Keywords:
Feeding and swallowing problemsbulbar functiondysphagiaspinal muscular atrophy.

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Last Updated: Jan 20, 2026

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Area of Science:

  • Neurology
  • Genetics
  • Clinical Medicine

Background:

  • Spinal muscular atrophy (SMA) is a genetic motor neuron disease caused by SMN1 gene loss, leading to progressive muscle weakness.
  • SMA severity varies widely among affected individuals.

Purpose of the Study:

  • Investigate self-reported bulbar problems in SMA patients.
  • Examine the relationship between bulbar issues, age, motor function, and mouth opening.

Main Methods:

  • Utilized the Diagnostic List of Dysphagia and Dysarthria.
  • Analyzed clinical data from a national SMA patient database.

Main Results:

  • High prevalence of jaw problems (34%), mastication fatigue (44%), choking (56%), and intelligibility issues (27%) in SMA patients.
  • Bulbar problems often co-occurred.
  • SMA type 3a patients over 30 reported more bulbar issues than younger counterparts.
  • Motor scores and mouth opening showed low correlations with most bulbar complaints.

Conclusions:

  • Mastication fatigue and swallowing difficulties are common in SMA.
  • Older patients (30+) with milder SMA forms experience increased self-reported bulbar problems.