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.
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.