Living with Moyamoya disease with early-onset achalasia
An exceedingly rare inherited condition that combines swallowing problems from infancy with narrowed blood vessels in the brain.
Understanding Moyamoya disease with early-onset achalasia
Achalasia, a condition that makes it hard for food to pass into the stomach, shows up in infancy. It comes with severe narrowing of blood vessels in the brain, which in most cases fits moyamoya disease. Other signs may include high blood pressure, Raynaud phenomenon (fingers that change color in the cold), and a lacy, net-like skin pattern called livedo reticularis.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stroke
- Narrowed brain blood vessels (moyamoya)
- High blood pressure
- Trouble swallowing from achalasia
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, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in GUCY1A1 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); Digestive system specialists (gastroenterologists); 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 Moyamoya Foundation
- 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
This condition is caused by changes in the GUCY1A1 gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: moyamoya 6 with achalasia; moyamoya disease 6 with or without achalasia; mymy6
Patient organizations
- Moyamoya FoundationMoyamoya disease with early-onset achalasia · United States
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