Living with Lethal arthrogryposis-anterior horn cell disease syndrome
A rare inherited condition with stiff, fixed joints before birth and loss of nerve cells that control muscles.
Understanding Lethal arthrogryposis-anterior horn cell disease syndrome
Joints are fixed in place (contractures) because the baby moves very little before birth. Facial differences can include low-set ears, a small jaw, and a short neck. Babies have low muscle tone and breathing problems. Some children grow up and may show delayed development and poor speech.
Signs & symptoms
GARD doesn't list common symptoms. Its summary and uncommon list mention these features:
- Multiple joint contractures
- Low muscle tone (hypotonia)
- Breathing problems (respiratory insufficiency)
- Low-set ears and small jaw
- Developmental delay
- Poor speech
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 bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in GLE1 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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 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
It is caused by changes in the GLE1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: aahd; arthrogryposis-anterior horn cell disease syndrome; caahd; congenital arthrogryposis with anterior horn cell disease; laahd; vuopala disease
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 Lethal arthrogryposis-anterior horn cell disease syndrome.
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