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.

Cardiac 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.

I live in Valencia, Spain, am 44 years old and diagnosed with GSD15 – the only known case in my country. I would like to make contact with other people with this rare disease.”

Fernando Nieto 
randonieto@hotmail.com

RESEARCH

There is very little published on GSD15, but the following case report will be useful.

“Glycogenin-1 Deficiency and Inactivated Priming of Glycogen Synthesis”, N Engl J Med 2010; 362:1203-1210
DOI: 10.1056/NEJMoa0900661.

Go to paper.

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.

A PATIENT’S STORY

Despite the rarity of GSD15, we have a patient’s story for you to read.
Go to the GSD15 patient story.