Living with Lethal congenital contracture syndrome 4
A rare genetic condition affecting how muscles and joints develop before birth, causing stiffness and contractions.
Understanding Lethal congenital contracture syndrome 4
It causes severe muscle contractions and stiffness. It belongs to a group of conditions that affect muscle and joint development before birth.
Signs & symptoms
GARD doesn't list specific symptoms beyond muscle contractions and stiffness.
- Severe muscle contractions
- Muscle stiffness
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.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 a specific change in the MYBPC1 gene, on chromosome 12q23. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: lccs4; lethal congenital contracture syndrome caused by mutation in mybpc1; lethal congenital contracture syndrome type 4; mybpc1 lethal congenital contracture syndrome
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 congenital contracture syndrome 4.
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