Living with Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
A condition that changes how muscle cells use sugar for energy, causing tiredness, pain, and cramps during exercise.
Understanding Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
People get tired and have muscle pain and cramps during exercise. In some, intense exercise leads to breakdown of muscle tissue (rhabdomyolysis), which can cause rust-colored urine (myoglobinuria) and kidney damage. A skin rash may develop. Severity varies greatly. It is usually noticed in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Easy tiredness
- Muscle pain with exercise
- Muscle breakdown with exercise (rhabdomyolysis)
- Skin rash with red, scaly patches or pimples
- Heat intolerance
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 LDHA 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 LDHA gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: glycogen storage disease caused by mutation in ldha; glycogen storage disease xi; glycogenosis due to lactate dehydrogenase m-subunit deficiency; gsd due to lactate dehydrogenase m-subunit deficiency; gsd xi; lactate dehydrogenase a deficiency
Patient organizations
- Muscular Dystrophy AssociationGlycogen storage disease due to lactate dehydrogenase M-subunit deficiency · United States
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