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GSD9 was first described in 1966.  It is further categorized into four subtypes - 9a, 9b, 9c, 9d.  Type 9d is an extremely rare form of the disorder and is characterized by phosphorylase kinase deficiency of the muscle.

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.


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.

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