GSD13
GSD13 is also known as muscle beta-enolase deficiency.
As at as 2020 we knew of just five cases in the world, so very little is known about it as yet.
Estimated cases diagnosed worldwide: <10.
QUICK OVERVIEW
SYMPTOMS
Muscle pain and fatigue during intense activity, normal baseline CK, rhabdomyolysis.
SECONDARY
Myoglobinuria.
ONSET
Early and adult onset.
INVOLVED
Skeletal muscle.
TREATMENT
No specific treatment. Avoid anaerobic activity.
OUTLOOK
Good with avoidance of intense exercise.
IAMGSD would welcome hearing from patients or doctors who could help us to improve and expand our information on this extremely rare muscle GSD.
EARLY CASE REPORTS
Here you can read here the abstracts of reports on the early cases that have been diagnosed. It appears that patients may be less affected than those with McArdle disease, yet can experience rhabdomyolysis and myoglobinuria. The milder symptoms may be due to some residual enzyme activity - described as 10% to 20% in the cases so far reported.
MANAGEMENT
At the present time it is considered that it is a sensible precaution to follow the same advice about avoiding rhabdomyolysis as is given for McArdle disease (GSD5). In addition, the same advice applies for when to attend hospital in the event of a strong cramp or contracture
101 Tips book for McArdle disease.
Medical emergency guidance for McArdle Disease.
THE FUTURE
It is very likely that with the advent of Next Generation Sequencing and a gene panel for conditions which can be the cause of rhabdomyolysis, more cases of GSD13 will be identified. As understanding of the condition grows, so IAMGSD will be able to offer better support for this extremely rare muscle GSD.