Living with Adrenomyodystrophy
An extremely rare genetic condition starting in infancy that affects the adrenal glands, muscles, and development.
Understanding Adrenomyodystrophy
It involves adrenal glands that don't make enough hormones, muscle disease, fat buildup in the liver, severe delay in development, and an enlarged bladder. GARD says there have been no further descriptions in the medical literature since 1982.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Adrenal glands not making enough hormones
- Low muscle tone (hypotonia)
- Severe developmental delay
- Poor weight gain (failure to thrive)
- Seizures
- Enlarged cornea (megalocornea)
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 genetic specialists and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- 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 rare disease patient organizations for support
- 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
GARD says changes in genes cause this condition, but it doesn't name a gene.
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Adrenomyodystrophy.
Explore research for Adrenomyodystrophy
Explore actively recruiting Adrenomyodystrophy studies with HealthSpark.
Find actively recruiting studies for Adrenomyodystrophy with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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