Living with Glycogen storage disease IXd
A mild muscle form of phosphorylase kinase deficiency with exercise intolerance, aches, cramps, and slowly increasing weakness.
Understanding Glycogen storage disease IXd
It features exercise intolerance, muscle aches, cramps, rust-colored urine from muscle breakdown (myoglobinuria), and progressive muscle weakness. It is usually noticed in the teen years or adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble with exercise (exercise intolerance)
- Fatigue
- Muscle aches
- Progressive muscle weakness
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 PHKA1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Association for Glycogen Storage Disease
- 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 PHKA1 gene cause this condition. GARD lists both autosomal recessive and X-linked inheritance.
Also known as: glycogen storage disease caused by mutation in phka1; glycogen storage disease due to muscle phosphorylase kinase deficiency; glycogen storage disease type 9d; glycogen storage disease type 9e; glycogen storage disease type ixd; glycogen storage disease type ixe
Patient organizations
- Association for Glycogen Storage DiseaseGlycogen storage disease IXd · United States
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