Living with Alacrima, achalasia, and intellectual disability syndrome
A rare inherited condition with little or no tear production, trouble moving food to the stomach, and intellectual disability.
Understanding Alacrima, achalasia, and intellectual disability syndrome
It can cause the eyes to make few or no tears, achalasia (trouble moving food from the swallowing tube into the stomach), and slower intellectual development. People may also have low muscle tone, trouble walking, pupils of different sizes, or vision or hearing problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- No tears (alacrima)
- Trouble moving food into the stomach (achalasia)
- Delayed speech and language
- Low muscle tone (hypotonia)
- Developmental delay
- Hearing problems
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
CDG CARE may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: CDG CARE
- 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 CDG CARE
- 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 parents pass this condition down through their genes. A child inherits a changed copy of a gene from each parent (autosomal recessive).
Also known as: alacrima, achalasia, and impaired intellectual development syndrome; intellectual disability, alacrima, achalasia syndrome
Patient organizations
- CDG CAREAlacrima, achalasia, and intellectual disability syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Alacrima, achalasia, and intellectual disability syndrome.
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