This is a genotype with recommended actions if clinically confirmed. In brief:
- Myofibrillar Myopathy (MFM) is characterized by slowly progressive muscle weakness, from distal to proximal lower extremities with eventual involvement of upper extremities, trunk, facial and respiratory muscles.
- Mutations in the BAG3, DES and FLNC genes may cause MFM.
- Cardiac manifestations of MFM include cardiomyopathy and arrhythmia.
- MFM patients should be treated at a multidisciplinary clinic (including cardiology, physical therapy and occupational therapy) designed specifically to care for patients with neuromuscular diseases (NMDs).
- Cardiac evaluation should be performed before anesthesia/sedation in patients with MFM.
- In asymptomatic patients, annual cardiac evaluation with examination, ECG and structural evaluation (echocardiography or cardiac MRI) is reasonable. Pulmonary function monitoring and checking for spinal deformities are also recommended.
- Things MFM patients should avoid include dehydration, exercising to exhaustion, and supramaximal, high-intensity exercise due to the risk of exercise-induced muscle damage.
The full ClinGen Actionability report about Myofibrillar Myopathy (MFM) can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.
