| McArdle disease (also known as glycogen storage disease type V) |
| Geno
|
Mag
|
Summary
|
| (A;A)
|
5
|
McArdle disease (also known as glycogen storage disease type V)
|
| (A;T)
|
3
|
Carrier of a McArdle disease mutation
|
| (C;T)
|
3
|
Carrier of a McArdle disease mutation
|
| (T;T)
|
0
|
common in clinvar
|
This is a genotype with recommended actions if clinically confirmed. In brief:
- Annual routine physical examination and review of diet.
- Avoid repetitive episodes of muscle damage that may lead to rhabdomyolysis and fixed weakness.
- Be aware risk for acute muscle damage from certain general anesthetics (usually muscle relaxants and inhaled anesthetics.
- Statin-induced myopathy risk may be increased 12-20 fold for all carriers of a PYGM pathogenic mutation.
The full ClinGen Actionability report about autosomal recessive Glycogen storage disease V 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.
