Have questions? Visit https://www.reddit.com/r/SNPedia

rs727504448(-;G)

From SNPedia
Myofibrillar Myopathy
Is agenotype
ofrs727504448
GeneDES
Chromosome2
Position219,420,116
mentionedby
Magnitude6.5
ReputeBad
Geno Mag Summary
(-;G) 6.5 Myofibrillar Myopathy
(G;G) 0 common in clinvar

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.