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Functional Electrical Stimulation: A Possible Strategy to Improve Muscle Function in Central Core Disease?
Pierpaolo Iodice1,2, Simona Boncompagni1, Laura Pietrangelo1
1CeSI-Met-Center for Research on Ageing and Translational Medicine, University G. d'Annunzio, Chieti, Italy.
Frontiers in Neurology
|June 14, 2019
Summary
Functional electrical stimulation (FES) improved muscle structure and function in a Central Core Disease (CCD) patient. This approach may help maintain muscle function and reduce loss in individuals with this congenital myopathy.
Area of Science:
- Neurology
- Muscle Physiology
- Genetics
Background:
- Central Core Disease (CCD) is a congenital myopathy often linked to RYR1 gene mutations.
- Current CCD management relies on physiotherapy, with no specific treatments available.
- Functional electrical stimulation (FES) offers a potential method for muscle stimulation.
Purpose of the Study:
- To evaluate the efficacy of FES in a patient with Central Core Disease.
- To assess FES's impact on muscle loss and functional improvement in lower extremities.
Main Methods:
- A 55-year-old female CCD patient with identified RYR1 mutations (c.7354C>T and c.12853_12864dup12) underwent 26 months of FES.
- Assessments included muscle force, MRI, functional mobility tests, and muscle biopsy analysis (histology, electron microscopy).
Main Results:
- FES treatment led to improvements in muscle structure and function.
- The patient showed enhanced leg extensor muscle force and mobility.
- Histological and imaging analyses supported functional improvements.
Conclusions:
- FES demonstrated potential as a supportive therapy for Central Core Disease patients.
- This approach may help maintain or improve muscle function and potentially reduce muscle loss in CCD.
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