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GSD13

GSD13 is also known as muscle beta-enolase deficiency.
As at as January 2018 there are just four reported cases in the world, so very little is known about it as yet.
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.


 

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.

First ever report of GSD13, in Italy.

Further cases reported in the UK and Italy.

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 (GDSD5). 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.

IAMGSD would welcome hearing from patients or doctors who could help us to improve and expand our information on this extremely rare muscle GSD.