Living with Glycogen storage disease type X
Also called phosphoglycerate mutase deficiency: a muscle condition with aches and cramps after hard exercise, starting in childhood or the teen years.
Understanding Glycogen storage disease type X
Starting in childhood or adolescence, people have muscle aches or cramping after strenuous activity. Some have repeated episodes of myoglobinuria, in which muscle breaks down and releases a protein into the urine, which if untreated can lead to kidney failure. In some people, small tube-shaped structures called tubular aggregates are seen in muscle fibers.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes these:
- Muscle aches after strenuous activity
- Muscle cramps
- Rust-colored urine from muscle breakdown (myoglobinuria)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in PGAM2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Muscular Dystrophy Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Muscular Dystrophy Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Muscular Dystrophy Association
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the PGAM2 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: dimauro disease; glycogen storage disease caused by mutation in pgam2; glycogen storage disease due to phosphoglycerate mutase deficiency; glycogen storage disease type 10; glycogenosis due to phosphoglycerate mutase deficiency; gsd due to phosphoglycerate mutase deficiency
Patient organizations
- Muscular Dystrophy AssociationGlycogen storage disease type X · United States
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