Overview
Alacrimia-choreoathetosis-liver dysfunction syndrome is an extremely rare genetic disorder that affects multiple body systems. The name describes its three main features: alacrimia (the inability to produce tears), choreoathetosis (involuntary writhing and jerky movements), and liver dysfunction (problems with how the liver works). This condition falls under a group of disorders related to abnormal processing of certain sugars attached to proteins, known as congenital disorders of glycosylation. Children with this syndrome typically show signs early in life. The lack of tears can lead to dry, irritated eyes and increase the risk of eye infections and damage. The movement problems (choreoathetosis) can make it difficult to control the arms, legs, and body, affecting walking, feeding, and daily activities. Liver dysfunction can range from mildly abnormal liver blood tests to more significant liver disease. Because this condition is so rare, there is no specific cure. Treatment focuses on managing each symptom individually. Eye drops or artificial tears help protect the eyes. Medications may be used to help control involuntary movements. Liver function is monitored regularly, and supportive care is provided as needed. A team of specialists working together is important for the best possible care.
Also known as:
Key symptoms:
Inability to produce tears (dry eyes)Involuntary writhing or jerky body movementsLiver problems or abnormal liver function testsDifficulty with coordination and balanceDevelopmental delayDifficulty feedingLow muscle tone in infancyElevated liver enzymes in blood testsEye irritation or frequent eye infectionsDifficulty walking or delayed motor milestonesSpeech difficultiesIntellectual disability
Clinical phenotype terms (50)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
2 eventsEva Morava-Kozicz — PHASE2
Grace Science, LLC — PHASE1, PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Alacrimia-choreoathetosis-liver dysfunction syndrome.
2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Alacrimia-choreoathetosis-liver dysfunction syndrome.
Community
No community posts yet. Be the first to share your experience with Alacrimia-choreoathetosis-liver dysfunction syndrome.
Start the conversation →Latest news about Alacrimia-choreoathetosis-liver dysfunction syndrome
Disease timeline:
New recruiting trial: Clinical and Basic Investigations Into Congenital Disorders of Glycosylation
A new clinical trial is recruiting patients for Alacrimia-choreoathetosis-liver dysfunction syndrome
New recruiting trial: Safety and Efficacy of GS-100 Gene Therapy in Patients With NGLY1 Deficiency
A new clinical trial is recruiting patients for Alacrimia-choreoathetosis-liver dysfunction syndrome
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's liver involvement, and how often should liver function be monitored?,What medications or therapies can help control the involuntary movements?,How can we best protect my child's eyes from damage due to lack of tears?,Are there any clinical trials or experimental treatments available for this condition?,What developmental therapies should we start, and how often?,Should we consider genetic counseling for our family regarding future pregnancies?,What emergency signs should we watch for at home?
Common questions about Alacrimia-choreoathetosis-liver dysfunction syndrome
What is Alacrimia-choreoathetosis-liver dysfunction syndrome?
Alacrimia-choreoathetosis-liver dysfunction syndrome is an extremely rare genetic disorder that affects multiple body systems. The name describes its three main features: alacrimia (the inability to produce tears), choreoathetosis (involuntary writhing and jerky movements), and liver dysfunction (problems with how the liver works). This condition falls under a group of disorders related to abnormal processing of certain sugars attached to proteins, known as congenital disorders of glycosylation. Children with this syndrome typically show signs early in life. The lack of tears can lead to dry,
How is Alacrimia-choreoathetosis-liver dysfunction syndrome inherited?
Alacrimia-choreoathetosis-liver dysfunction syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Alacrimia-choreoathetosis-liver dysfunction syndrome typically begin?
Typical onset of Alacrimia-choreoathetosis-liver dysfunction syndrome is infantile. Age of onset can vary across affected individuals.
Are there clinical trials for Alacrimia-choreoathetosis-liver dysfunction syndrome?
Yes — 2 recruiting clinical trials are currently listed for Alacrimia-choreoathetosis-liver dysfunction syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Alacrimia-choreoathetosis-liver dysfunction syndrome?
2 specialists and care centers treating Alacrimia-choreoathetosis-liver dysfunction syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.