Living with Adenosine monophosphate deaminase deficiency
A condition that can affect muscles, often with tiredness, pain, or cramps after exercise, though many people have no symptoms.
Understanding Adenosine monophosphate deaminase deficiency
Many people with it have no symptoms. Those who do typically feel tired, or have muscle pain or cramps after exercise. After strenuous activity, they often tire faster and stay tired longer than expected. Rarely, people have more severe weakness, low muscle tone, or muscle wasting, but it is unclear whether these come from this condition alone. Exercise problems usually show up in childhood or early adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle tiredness with exercise
- Muscle pain with exercise (myalgia)
- Weakness in the arms or legs
- Muscle aches
- Muscle spasms
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 AMPD3 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, United Mitochondrial Disease Foundation and MitoAction 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, United Mitochondrial Disease Foundation, MitoAction
- 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 and other patient organizations
- 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 AMPD3 gene cause this condition. GARD lists autosomal recessive and mitochondrial inheritance.
Also known as: amp deaminase deficiency; deficiency of adenosine monophosphate deaminase; deficiency of adenylic acid deaminase; deficiency of amp aminase; deficiency of amp deaminase; myoadenylate deaminase deficiency
Patient organizations
- Muscular Dystrophy AssociationAdenosine monophosphate deaminase deficiency · United States
- United Mitochondrial Disease FoundationMitochondrial diseases · United States
- MitoActionMitochondrial diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Adenosine monophosphate deaminase deficiency.
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