GSD15

There seems great variability in symptoms, some patients experiencing muscle issues, others with heart involvement.  Symptoms commonly present in adulthood, with progressive muscle weakness and exercise intolerance.
Estimated cases diagnosed worldwide: <10.

QUICK OVERVIEW

SYMPTOMS

Dizziness and palpitations following exercise. Asymmetric and distal limb muscle weakness. Normal baseline CK.

SECONDARY

Cardiac arrhythmia. Progressive muscle weakness. 

ONSET

 Child or adult.

INVOLVED

Skeletal muscle.

TREATMENT

No specific treatment.

OUTLOOK

Not yet known.

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

MANAGEMENT

Affected individuals are assessed on an individual basis and treated according to their symptoms.

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 GSD15 will be identified. As understanding of the condition grows, IAMGSD will be able to offer better support for this extremely rare muscle GSD.