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: c50.
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
NUMBERS
The September 2020 paper below mentions that so far there had been 38 cases of GSD15 reported worldwide.
RESEARCH
There is very little published on GSD15 and what there is tends to be very technical. However, the following papers be useful.
This is one of the most recent papers, a case report from September 2020, “Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy”. Mol Genet Metab Rep. 2020 Sep; 24: 100597.
“Glycogenin-1 Deficiency and Inactivated Priming of Glycogen Synthesis”, N Engl J Med 2010; 362:1203-1210.
The above paper is summarised in an entry about GSD15 in the OMIM database. If further papers are published they may well be summarised here as well, giving a bit more of an overview. So it may be worth visiting now and again to see if there is anything new.
Go to the OMIM entry.
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.
MEDICAL PRESENTATION
This is an update on basic science, clinical phenotypes and potential therapies for GSD15. It was made in October 2022 by Dr Benjamin Cocanougher from Duke University Medical Centre for the IGSD2022 virtual conference hosted by AGSD US. It is a very technical presentation but hopefully you will find it interesting and useful.