Understanding muscle disorders that cause weakness and stiffness
Pathophysiology of Myotonia and Periodic Paralysis
This study is looking into how certain genetic changes affect muscle function in people with periodic paralysis and myotonia, with the hope of finding new treatments to help improve their muscle strength and reduce stiffness.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California Los Angeles NIH-funded |
| Lab location | 1 site (Los Angeles, United States) |
| Project ID | NIH-10863854 on NIH RePORTER |
What this research studies
This research investigates the mechanisms behind periodic paralysis and myotonia, which are conditions that affect muscle function, leading to episodes of severe weakness and stiffness. By studying specific genetic mutations in ion channels, the research aims to uncover how these defects cause muscle excitability issues. The team will use advanced simulations and functional studies to explore how various triggers, such as diet and stress, impact muscle performance. Ultimately, the goal is to develop and test new therapeutic interventions that could improve the lives of those affected by these disorders.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with periodic paralysis or myotonia, particularly those with known genetic mutations affecting ion channels.
Not a fit: Patients with muscle disorders not related to ion channel dysfunction may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that significantly reduce the frequency and severity of muscle weakness and stiffness episodes for patients.
How similar studies have performed: Previous research has shown promising results in understanding ion channelopathies, indicating that this approach could lead to significant advancements in treatment.
Where this research is happening
Los Angeles, United States
- University of California Los Angeles — Los Angeles, United States (Active)
Researchers
- Principal investigator: Cannon, Stephen C. — University of California Los Angeles
- Study coordinator: Cannon, Stephen C.
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.