Alacrima, Achalasia, and Intellectual Disability Syndrome

AAID (Alacrima, Achalasia, and Intellectual Disability Syndrome) is a rare, inherited condition. The three core problems are:

• Alacrima: very low or absent tear production. Eyes feel dry, burn, itch, or tear “reflexively” but not enough to protect the surface.

• Achalasia: a tight lower esophageal sphincter (the valve into the stomach) that does not relax normally. Food and liquids have trouble passing; people may cough, regurgitate, or lose weight.

• Intellectual disability: learning and developmental challenges (from mild to more severe), sometimes with speech delay, fine-motor challenges, or behavioral issues.

AAID is caused by harmful variants in GMPPA, a gene involved in sugar handling for protein processing (glycosylation). This gene problem can disturb several body systems, especially the tear glands, esophagus, and brain development. AAID is distinct from—but often confused with—Triple-A (Allgrove) syndrome, which has alacrima and achalasia too, but adds primary adrenal insufficiency and is linked to the AAAS gene. In AAID, adrenal insufficiency is not a core feature. MedlinePlus+4ScienceDirect+4PubMed+4

Alacrima, achalasia, and intellectual disability syndrome is a very rare genetic condition. Babies or young children usually show signs early in life. The classic “triad” is: very few or no tears (alacrima), trouble moving food through the lower esophagus because the valve does not relax (achalasia), and delayed development or intellectual disability. The condition is inherited in an autosomal recessive way. That means both parents silently carry one copy of a changed gene, and a child who gets both copies is affected. Doctors sometimes write the name as AAMR or GMPPA-CDG. People with this syndrome do not have adrenal gland failure, which helps doctors tell it apart from a different condition called “Triple A” or “Allgrove” syndrome. Orpha+3NCBI+3PubMed+3

Other names

Doctors and medical sites may use several names for the same syndrome:

• AAMR (Alacrima, Achalasia, and Mental Retardation) — older wording used in early papers.

• Alacrima, Achalasia, and Intellectual Disability syndrome — current plain name.

• GMPPA-CDG (GMPPA-Congenital Disorder of Glycosylation) — name that points to the gene and the sugar-processing pathway involved.

• AAID is also used by some labs. Rare Diseases+2Invitae+2

Types

There is no single official “typing” system, but doctors often group patients in three helpful ways:

1. By gene
   The classic form is due to harmful changes (variants) in the GMPPA gene. This gene helps control the flow of a sugar called GDP-mannose that cells use to “decorate” proteins with sugar chains (glycosylation). Rare reports describe a look-alike X-linked disorder with similar features, but the standard AAMR is autosomal recessive and linked to GMPPA. ScienceDirect+1

2. By main problem at onset
   Some children first show eye dryness (crying without tears). Others show feeding problems from achalasia. Others present first with developmental delay. All three core features usually appear. NCBI

3. By overlap with other syndromes
   A few children are first suspected to have Triple-A (Allgrove) syndrome because both conditions share alacrima and achalasia. The key difference: Triple-A has adrenal insufficiency; AAMR does not. This difference guides hormone testing and long-term care. MedlinePlus+1

Causes

Here “causes” includes the root genetic cause and the body changes that flow from it, plus factors that make symptoms worse or appear earlier.

1. GMPPA gene variants (mutations). These are the main root cause. They disrupt normal control of GDP-mannose, a key sugar donor for making glycoproteins. ScienceDirect+1

2. Autosomal recessive inheritance. A child needs two changed copies (one from each parent). Carriers are healthy. NCBI

3. Glycosylation disturbance. Protein “sugar-coating” becomes unbalanced. Many tissues then work less well. PubMed

4. Autonomic nerve dysfunction. Nerves that control tear glands and the lower esophageal sphincter do not signal normally. NCBI

5. Poor development of the tear (lacrimal) gland. Tear output is very low, causing dry eyes. NCBI

6. Myenteric plexus dysfunction in the esophagus. The valve at the stomach entrance (LES) fails to relax, so food sticks. This is achalasia.

7. Weak esophageal squeezing. The esophagus pushes food down poorly, so feeding is hard and slow.

8. Corneal surface vulnerability. Very dry eyes remove natural protection. The cornea can become inflamed or scratched.

9. Brain development effects. Disrupted glycosylation can affect brain growth and wiring, leading to developmental delay. PubMed

10. Low muscle tone (hypotonia). Muscles and nerves do not coordinate well in infancy, slowing milestones. NCBI

11. Feeding stress and malnutrition. Hard feeding and vomiting reduce growth and can worsen development.

12. Reflux and aspiration. Food that does not pass can come back up and enter the lungs, causing cough or pneumonia.

13. Recurrent eye infections. Dryness raises the risk of conjunctivitis and corneal problems.

14. Sleep disturbance. Discomfort, reflux, or breathing issues can cut sleep and worsen learning.

15. Infections and illness. Any infection may worsen swallowing or eye dryness for a time.

16. Environmental dryness. Low-humidity air increases eye dryness and discomfort.

17. Medications that dry secretions. Drugs with anticholinergic effects can reduce tears and saliva further.

18. Delayed diagnosis. Late recognition delays swallow therapy, eye protection, and developmental support.

19. Consanguinity in some families. When parents are related, the chance of both carrying the same rare variant is higher.

20. Confusion with Triple-A syndrome. If adrenal testing is skipped, the care plan may be less targeted; proper testing clarifies this. MedlinePlus+1

Common symptoms and signs

1. Alacrima (little or no tears). Parents may notice “crying without tears” in infancy. Eyes feel gritty or burn. NCBI

2. Dry eye complications. Red eyes, light sensitivity, frequent blinking, or corneal irritation can occur.

3. Achalasia. Food and liquids move slowly through the lower esophagus. Children cough, choke, or vomit after meals.

4. Feeding difficulty in infancy. Long feeds, poor weight gain, and frequent spit-ups are common.

5. Regurgitation and chest pain. Older children report pressure or pain behind the breastbone after eating.

6. Weight loss or poor growth. Hard feeding reduces calories and slows growth.

7. Intellectual disability. Learning is slower. Children may need special education and therapy. NCBI

8. Motor delay and hypotonia. Sitting, crawling, or walking may come later than usual; muscles feel “floppy.”

9. Speech delay. First words and clear speech come late; therapy helps.

10. Autonomic features. Unequal pupil size (anisocoria), variable sweating, or temperature control issues may be present. NCBI

11. Recurrent chest infections. Aspiration from regurgitation can cause cough or pneumonia.

12. Reflux symptoms. Sour taste, heartburn, or nighttime coughing.

13. Eye infections or corneal erosions. From severe dryness if eyes are not protected.

14. Behavioral features. Some children have attention, sensory, or social difficulties. Support plans help.

15. Fatigue with eating. Meals feel like work; children may avoid solid food.

Diagnostic tests

(Grouped as Physical Exam, Manual/Bedside Tests, Lab/Pathology, Electrodiagnostic/Physiologic, Imaging/Endoscopic.)

A) Physical exam and developmental assessment

1. Growth and nutrition check. The child’s weight, height, and head size are plotted on growth charts. Slow gain suggests feeding problems that need support.

2. Eye surface exam. A clinician looks for redness, filaments, or small surface injuries that dry eye can cause. This guides tear protection plans.

3. Neurologic exam. Tone, reflexes, gait, and coordination are checked. Low tone or clumsy movements support the neurologic part of the syndrome.

4. Autonomic signs. The doctor checks pupil size, sweating, skin moisture, and temperature feel. Unequal pupils (anisocoria) can appear. NCBI

5. Standardized developmental testing. Tools like Bayley Scales or IQ tests measure learning, speech, and motor skills. Results guide therapy goals.

B) Manual / bedside tests

6. Schirmer tear test. A small paper strip sits under the eyelid for 5 minutes to measure tears. Low wetting confirms alacrima. (Simple and quick.)

7. Fluorescein tear breakup time (TBUT). A safe dye shows how long tears coat the cornea. Fast “breakup” means unstable tears and dryness.

8. Ocular surface staining score. The same dye highlights tiny scratches from dryness. More staining means more damage risk.

9. Timed water or cracker swallow test. The child drinks water or eats a soft cracker while the clinician times how long it takes. Slow times suggest esophageal dysmotility.

10. Feeding observation by therapist. A speech-language or feeding therapist watches posture, chewing, and safety during meals, then teaches safer techniques.

C) Lab and pathological tests

11. Targeted genetic testing of the GMPPA gene. This is the confirmatory test. Doctors look for two harmful variants (one from each parent). Panels for congenital disorders of glycosylation (CDG) or whole-exome/genome tests may also find the diagnosis. ScienceDirect+1

12. Glycosylation screening (e.g., transferrin analysis). Some CDGs show a typical pattern. In GMPPA-CDG this test may be normal or nonspecific, so genetics is often needed. PubMed

13. Nutrition labs. Blood counts, iron studies, vitamins, and electrolytes show the effects of poor intake or vomiting and help plan nutrition.

14. Endocrine tests to rule out Triple-A syndrome. Morning cortisol and ACTH check adrenal function. Results are normal in AAMR but may be low in Triple-A, which helps tell the two apart. MedlinePlus+1

15. Eye surface inflammation markers (when available). Some clinics measure tear osmolarity or inflammatory markers to track dryness severity.

D) Electrodiagnostic / physiologic tests

16. High-resolution esophageal manometry. A thin catheter measures pressure along the esophagus. In achalasia, the lower valve fails to relax and peristalsis is poor. This is the gold-standard physiologic test for achalasia.

17. 24-hour pH-impedance study (if reflux is suspected). This test tracks acid and non-acid backflow. It guides reflux treatment when regurgitation or cough is frequent.

18. EEG (if seizures or spells occur). This brain wave test looks for abnormal activity and helps tailor neurologic care.

E) Imaging and endoscopic tests

19. Barium swallow (esophagram). X-rays after drinking barium show a classic “bird-beak” narrowing at the lower esophagus and a stretched esophagus above it in achalasia.

20. Upper endoscopy (EGD). A camera views the esophagus and stomach. Doctors rule out blockage and assess inflammation; they can also treat achalasia during the procedure in some centers.

21. Chest X-ray. This looks for a widened esophagus, fluid levels, or lung changes from aspiration.

22. Esophageal ultrasound or endoscopic ultrasound (selected cases). These tests look at esophageal wall thickness and nearby structures when needed.

23. Orbital imaging (ultrasound or MRI) if indicated. It can look at lacrimal glands when the diagnosis is unclear or other eye problems are suspected.

24. Brain MRI (selected cases). This assesses brain structure in children with marked developmental delay or unusual neurologic signs.

Why these particular tests? Together they confirm the triad (eye dryness, esophageal motility, and development) and, most importantly, they confirm the gene diagnosis and exclude Triple-A by checking adrenal function. This is the core diagnostic logic in clinics. NCBI+2ScienceDirect+2

Non-pharmacological treatments

1. Multidisciplinary care plan
   Purpose: coordinate eye, GI, nutrition, speech/OT/PT, developmental pediatrics, and genetics.
   Mechanism: reduces gaps in care; aligns goals across symptoms.

2. Genetic counseling for the family
   Purpose: explain inheritance (autosomal recessive), recurrence risk, and testing of relatives.
   Mechanism: informed planning and early detection in siblings.

3. Ocular surface routine (preservative-free artificial tears frequently, nighttime gel, eyelid hygiene)
   Purpose: protect the cornea from dryness-related damage.
   Mechanism: replaces missing tears; stabilizes tear film.

4. Humidify the environment
   Purpose: lessen evaporation and irritation.
   Mechanism: raises ambient humidity → slower tear film breakup.

5. Blink training and screen breaks (20-20-20 rule)
   Purpose: prevent staring-related dryness.
   Mechanism: frequent blinking spreads tear film and meibum.

6. Moisture-chamber goggles / wrap-around eyewear
   Purpose: cut wind and airflow over the eyes.
   Mechanism: reduces tear evaporation and exposure keratopathy.

7. Punctal occlusion (temporary plugs)
   Purpose: keep tears and drops on the eye longer.
   Mechanism: blocks tear drainage to increase ocular surface residence time.

8. Scleral contact lenses (medically fitted)
   Purpose: create a fluid reservoir against the cornea for severe dryness.
   Mechanism: continuous liquid layer protects and lubricates.

9. Swallow/feeding therapy (SLP-led)
   Purpose: safer swallowing, reduce aspiration, improve nutrition.
   Mechanism: posture, pacing, texture changes, and swallow strategies.

10. Texture-modified diet & small frequent meals
    Purpose: help food pass the tight lower esophageal sphincter.
    Mechanism: softer, smoother boluses clear more easily.

11. Head-of-bed elevation and upright posture after meals
    Purpose: reduce regurgitation and reflux-related cough.
    Mechanism: gravity aids esophageal emptying.

12. Warm liquids “priming” before meals
    Purpose: ease esophageal transit.
    Mechanism: warmth can transiently relax smooth muscle (mild effect).

13. Airway protection training
    Purpose: reduce choking risk.
    Mechanism: pacing, small sips, double-swallow, and cough-clear tactics.

14. Individualized Education Plan (IEP) / special education supports
    Purpose: optimize learning and communication.
    Mechanism: structured goals, speech therapy, assistive tech.

15. Occupational therapy (fine-motor, sensory) & physical therapy (balance, tone)
    Purpose: improve independence and motor skills.
    Mechanism: task-specific, repetitive neuroplastic training.

16. Behavioral therapy (ABA/parent-coaching/CBT principles adapted)
    Purpose: communication, routines, and behavior regulation.
    Mechanism: shape skills via reinforcement and coping strategies.

17. Sleep hygiene plan
    Purpose: better sleep improves behavior and development.
    Mechanism: consistent schedule, light exposure, and calm routine.

18. Dental prevention bundle
    Purpose: prevent caries from regurgitation/reflux exposure.
    Mechanism: fluoride varnish, brushing after regurgitation, dental follow-up.

19. Caregiver training and emergency plan
    Purpose: know choking first aid, when to seek urgent care.
    Mechanism: rapid response lowers risk.

20. Vaccination & respiratory-illness minimization
    Purpose: reduce infections that worsen swallowing and nutrition.
    Mechanism: immunization and hygiene interrupt disease spread.

---

Drug treatments

Doses vary by age/weight—always individualize with your clinician.

Ocular (alacrima / dry-eye management)

1. Carboxymethylcellulose or hydroxypropyl-methylcellulose eye drops (lubricant)—1 drop q2–4h and PRN; gel at night.
   Purpose: replace tears; Mechanism: viscosities mimic tear film;
   Side effects: temporary blur, mild sting.

2. Carbomer or petrolatum-mineral oil gel/ointment (night)—bedtime.
   Purpose: overnight corneal protection; Mechanism: occlusive layer;
   Side effects: blur until morning.

3. Topical cyclosporine 0.05% (calcineurin inhibitor)—1 drop BID (takes weeks).
   Purpose: increase natural tear production in inflammatory dry eye;
   Mechanism: T-cell modulation at lacrimal/ocular surface;
   Side effects: burn/sting; rare infection risk. PMC

4. Lifitegrast 5% (LFA-1 antagonist)—1 drop BID.
   Purpose: reduce ocular surface inflammation;
   Mechanism: blocks LFA-1/ICAM-1 interaction;
   Side effects: dysgeusia, irritation.

5. Short pulse of loteprednol (topical steroid)—QID for 1–2 weeks for flares.
   Purpose: quiet surface inflammation quickly;
   Mechanism: anti-inflammatory;
   Side effects: pressure rise/cataract with prolonged use (avoid long term without monitoring).

6. Azithromycin 1% ophthalmic or oral doxycycline (meibomian gland dysfunction)—drops HS x 1–2 weeks or doxycycline 40–50 mg daily (adults).
   Purpose: improve oil layer;
   Mechanism: anti-inflammatory/lipase effects;
   Side effects: GI upset, photosensitivity (doxy); age limits apply.

7. Autologous serum eye drops (20%)—per protocol, several times daily (specialist prepared).
   Purpose: supply growth factors/vitamins to heal the ocular surface in severe aqueous-deficient dry eye;
   Mechanism: biologic tear substitute;
   Side effects: infection risk if mishandled. PMC+2American Academy of Ophthalmology+2

Esophageal (achalasia symptom relief; note medicines are often less effective than procedures)

1. Nifedipine (calcium-channel blocker)—10–30 mg SL 10–30 min before meals.
   Purpose: temporarily relax lower esophageal sphincter (LES);
   Mechanism: smooth-muscle relaxation;
   Side effects: flushing, hypotension, headache, edema. PMC+1

2. Isosorbide dinitrate (nitrate)—5 mg SL 10–15 min before meals.
   Purpose: short-term LES relaxation;
   Mechanism: nitric-oxide donor;
   Side effects: headache, hypotension, tolerance. PMC+2Wiley Online Library+2

3. Proton-pump inhibitor (e.g., omeprazole 20–40 mg daily)
   Purpose: protect esophagus from acid after interventions or with regurgitation/reflux;
   Mechanism: blocks gastric acid secretion;
   Side effects: headache, diarrhea; long-term risks discussed with clinician.

4. Baclofen 5–10 mg TID (off-label)
   Purpose: decrease transient LES relaxations/regurgitation in selected patients;
   Mechanism: GABA-B agonist;
   Side effects: drowsiness, dizziness.

5. Antiemetic for episodes (ondansetron 4–8 mg)
   Purpose: nausea control during exacerbations or procedures;
   Mechanism: 5-HT3 blockade;
   Side effects: constipation, headache, QT risk.

6. Prokinetics (limited role; e.g., metoclopramide 5–10 mg before meals/HS short-term)
   Purpose: symptom aid if gastric emptying is slow;
   Mechanism: dopamine antagonism, 5-HT4;
   Side effects: fatigue, extrapyramidal symptoms—use cautiously and short-term.

Neurodevelopment/behavior (tailored to individual needs)

1. Methylphenidate (stimulant)—titrated AM/noon.
   Purpose: attention and hyperactivity;
   Mechanism: catecholamine reuptake blockade;
   Side effects: appetite ↓, insomnia, BP/HR ↑.

2. Guanfacine/clonidine (alpha-2 agonists)—daily or HS.
   Purpose: hyperactivity/impulsivity, sleep help;
   Mechanism: central sympathetic dampening;
   Side effects: sedation, hypotension.

3. Risperidone or aripiprazole (atypical antipsychotics)—low dose.
   Purpose: severe irritability/self-injury;
   Mechanism: D2/5-HT2A modulation;
   Side effects: weight gain, metabolic effects—monitoring needed.

4. Melatonin 1–5 mg HS
   Purpose: sleep onset;
   Mechanism: circadian synchronizer;
   Side effects: morning grogginess (usually mild).

5. SSRI (e.g., fluoxetine)
   Purpose: anxiety or repetitive behaviors impacting function;
   Mechanism: serotonin reuptake inhibition;
   Side effects: GI upset, activation; cautious dosing.

Symptom clusters and associated needs

1. Vitamin D (if deficient) per lab-guided dosing
   Purpose: bone and immune support;
   Mechanism: hormone for calcium and immunity;
   Side effects: hypercalcemia if excessive.

2. Anticonvulsant (e.g., levetiracetam) if seizures are present
   Purpose: seizure control;
   Mechanism: synaptic modulation;
   Side effects: mood irritability in some—monitor.

---

Dietary molecular supplements

Supplements support symptoms; they do not fix the gene problem.

1. Omega-3 fatty acids (EPA/DHA 1–2 g/day adults; pediatric per weight)
   Function: anti-inflammatory support for ocular surface;
   Mechanism: shifts eicosanoids toward less inflammatory mediators.

2. Vitamin A (retinol) at RDA only unless deficient
   Function: epithelial/ocular surface health;
   Mechanism: supports mucin-producing cells;
   Note: avoid high-dose toxicity; pregnancy precautions.

3. Vitamin D (lab-guided to sufficiency)
   Function: bone/immune;
   Mechanism: VDR-mediated gene regulation.

4. Vitamin B12
   Function: neurological function;
   Mechanism: myelin and methylation pathways.

5. Folate
   Function: methylation and neurodevelopment;
   Mechanism: one-carbon metabolism.

6. Zinc
   Function: epithelial repair and immunity;
   Mechanism: cofactor for many enzymes; avoid excess.

7. Selenium (RDA only)
   Function: antioxidant enzymes (GPx);
   Mechanism: reduces oxidative stress.

8. Lutein/zeaxanthin
   Function: macular/ocular surface antioxidant support;
   Mechanism: quenches reactive oxygen species.

9. N-acetylcysteine (NAC) 600 mg/day (adults)
   Function: mucolytic/antioxidant;
   Mechanism: cysteine donor → glutathione.

10. Probiotics (strain-specific)
    Function: GI comfort and stooling;
    Mechanism: microbiome modulation; choose child-safe strains.

---

Regenerative / stem-cell

There is no approved disease-modifying stem-cell drug for AAID. These items are supportive biologics or research-adjacent options for specific complications—only with specialists:

1. Autologous serum eye drops (ASEDs)—see above; prescription compounding.
   Function: ocular surface healing in severe dryness;
   Mechanism: growth factors/vitamins from serum. PMC+1

2. Platelet-rich plasma (PRP) eye drops
   Function: alternative biologic tear;
   Mechanism: platelet growth factors support epithelial repair. American Academy of Ophthalmology

3. Cenegermin (recombinant human nerve growth factor) eye drops if neurotrophic keratitis is diagnosed
   Function: corneal nerve healing;
   Mechanism: NGF-mediated regeneration of corneal nerves; specialist-only.

4. Limbal stem-cell transplantation only for proven limbal stem-cell deficiency with severe ocular surface failure
   Function: restore corneal surface;
   Mechanism: donor stem cells repopulate limbus; highly specialized surgery.

5. Biologic tear substitutes pipeline (research/clinical trials only)
   Function: next-gen ocular surface repair;
   Mechanism: targeted growth-factor formulations; trial-only.

6. Neuromodulation programs for dysphagia (research-adjacent)
   Function: augment swallow therapy in selected cases;
   Mechanism: cortical plasticity; experimental access only.

---

Procedures and surgeries

1. Peroral Endoscopic Myotomy (POEM)
   What: endoscopic cutting of the tight LES muscle from inside the esophagus.
   Why: long-lasting relief of achalasia; no external incisions.

2. Laparoscopic Heller Myotomy with partial fundoplication
   What: keyhole surgery to cut LES muscle and add a small wrap to reduce reflux.
   Why: durable symptom control; standard surgical option.

3. Graded pneumatic dilation
   What: endoscopic balloon stretch of LES, sometimes repeated.
   Why: less invasive; good option in some patients.

4. Botulinum toxin injection to LES
   What: endoscopic injection of botox into the sphincter.
   Why: short-term relief (months); useful if not a candidate for durable procedures.

5. Permanent punctal occlusion or partial tarsorrhaphy (eyelids)
   What: closing tear drains or partially sewing eyelids narrower.
   Why: protect the cornea in severe alacrima when drops and plugs are not enough.

Choice among POEM, Heller, dilation, and botox depends on age, achalasia subtype, local expertise, and risks; discuss at a center with achalasia experience. Medical relaxants (nitrates/CCB) help some but are generally less effective than procedures for long-term control. PMC

---

Prevention and safety tips

1. Early genetic confirmation to distinguish AAID from Triple-A (prevents missed adrenal testing patterns). Invitae+1

2. Regular eye checks to prevent corneal damage.

3. Use preservative-free drops to avoid toxicity with high-frequency use.

4. Avoid anticholinergic medicines when possible (they worsen dryness).

5. Meal pacing, small bites, careful textures to lower aspiration risk.

6. Head-of-bed elevation and upright time after meals.

7. Dental prevention due to regurgitation risk.

8. Vaccinations and infection-prevention habits.

9. Clear caregiver training for choking, when to seek help.

10. Ongoing school supports to prevent academic and social setbacks.

---

When to see a doctor urgently vs soon

Urgently (same day / emergency):

• Chest pain, severe breathing trouble, blue lips, or suspected aspiration pneumonia (fever, cough, fast breathing).

• Eye redness with severe pain or sudden vision drop (possible corneal ulcer).

• Inability to swallow even liquids; repeated vomiting with dehydration signs.

Soon (book next appointment):

• Worsening daytime eye discomfort despite frequent drops.

• Night cough/regurgitation, weight loss, or new choking episodes.

• School or behavior setbacks, sleep problems, or caregiver burnout.

---

Diet what to eat / what to avoid

Eat/Do

1. Soft, moist foods (soups, stews, yogurt, smoothies).

2. Warm liquids with meals to “prime” swallowing.

3. Small, frequent meals with slow pacing.

4. Adequate calories and protein (dietitian-guided) to prevent weight loss.

5. Hydration across the day; sip water between bites.

Avoid/Limit

1. Very dry, tough meats, crumbly breads, and sticky foods that lodge.
2. Large meals and late-night eating (increase regurgitation).
3. Chocolate, peppermint, alcohol, and high-fat heavy meals (can relax LES).
4. Highly spicy/acidic foods if they trigger heartburn.
5.  Very cold carbonated drinks (can distend the esophagus).

---

FAQs

1. Is AAID the same as Triple-A (Allgrove) syndrome?
   No. Both have alacrima and achalasia, but AAID (GMPPA) adds intellectual disability; Triple-A (AAAS) adds adrenal insufficiency. Genetic testing separates them. Invitae+1

2. How common is AAID?
   Very rare; only a small number of cases reported worldwide so far. PubMed

3. When do symptoms start?
   Often in infancy or early childhood. Rare Diseases Network

4. Can medicines cure achalasia?
   No. Medicines (nifedipine, nitrates) can help briefly; durable relief usually needs POEM, Heller myotomy, or dilation. PMC

5. Are autologous serum eye drops safe?
   They can help severe dryness when prepared correctly by qualified centers; handling and storage are important. PMC

6. Will my child need surgery?
   Many benefit from a definitive achalasia procedure after specialist evaluation; timing is individualized.

7. Can AAID affect life span?
   Data are limited; good nutrition, eye protection, and airway safety are key to long, healthy living.

8. Is learning improvement possible?
   Yes. Early therapy, IEPs, speech/OT/PT, and consistent routines often make a big difference.

9. Can contact lenses be worn?
   Standard lenses are often uncomfortable in severe dryness; scleral lenses may be an option under specialist care.

10. Are there special risks with anesthesia?
    Aspiration risk can be higher; anesthesiologists should know about achalasia and feeding issues.

11. Will siblings be affected?
    AAID is autosomal recessive; each full sibling has a 25% chance if both parents are carriers—discuss testing. Invitae

12. Is adrenal testing needed?
    Adrenal insufficiency is a hallmark of Triple-A, not AAID. Clinicians sometimes check once to be safe, especially early on, but AAID itself does not include adrenal failure. PubMed

13. Which procedure is “best” for achalasia?
    Depends on achalasia subtype, age, and expertise. Centers with experience will compare POEM, Heller, and dilation for your case. PMC

14. Any clinical trials?
    Because AAID is rare, trials are limited; your genetics team may know about registries or studies (especially for ocular surface biologics).

15. Top three daily habits that help most?
    Protect the eyes (drops/gel/humidify), pace and soften meals (upright after), and keep therapies/school supports consistent.

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: September 11, 2025.

PDF Documents For This Disease Condition References