GSD9 was first described in 1966.  It is further categorized into four subtypes - 9a, 9b, 9c, 9d.  Only GSD9d is a muscle GSD. It is an extremely rare form of the disorder and is characterized by phosphorylase kinase deficiency of the muscle.
Estimated cases diagnosed worldwide: <100.



Muscle pain following activity. Possible progressive muscle weakness and atrophy.




Infantile (rare), childhood.


Skeletal muscle.


High-protein, complex carbohydrate diet.


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.

Affected individuals may develop progressive muscle weakness, muscle degeneration, muscle cramps, and muscle pain following exercise. This can lead to dark coloured urine (myoglobinuria) due to the breakdown of myoglobin in the muscle.

Very little is know about GSD9d, but given that affected individuals experience exercise intolerance, it would be reasonable to follow the same advice about avoiding rhabdomyolysis as is given for McArdle disease (GSD5). In addition, the same advice applies for when to seek medical attention in the event of a strong cramp or contracture.


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 GSD9d will be identified. As understanding of the condition grows, IamGSD will be able to offer better support for this extremely rare muscle GSD.


We have only ever heard of a handful of cases of GSD9d worldwide, and we know it is really difficult for those affected to find each other and swap notes. If you have GSD9d please contact us so that we can try to put people in touch with each other.

What is IamGSD?

We are a patient-led international group encouraging efforts by research and medical professionals, national support groups and individual patients worldwide.

What is Muscle GSD?

Human bodies make glucose from carbohydrates. Excess glucose is stored as glycogen in our muscles and liver. Muscle glycogen storage disease is when our muscles cannot convert their glycogen back into glucose to power our muscles.

Muscle GSDs links
If you have another muscle GSD please contact us.

Site updated: 01/2021.

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