Living with Congenital myasthenic syndrome 4C
A rare condition affecting the connection between nerves and muscles, causing weakness that starts early in life.
Understanding Congenital myasthenic syndrome 4C
It causes muscle weakness that starts early in life and can range from mild to more severe. Tests show a shortage of a substance called AChR at the connection point between nerves and muscles. It is caused by genetic factors and can be inherited.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Drooping upper eyelid (ptosis)
- Weakness that worsens with use
- Weak eye muscles (ophthalmoparesis)
- Easy tiring (fatigability)
- Feeding difficulties
- Low muscle tone (hypotonia)
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
GARD says it is caused by genetic factors. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cms id; cms1d; cms4c; congenital myasthenic syndrome 4c associated with acetylcholine receptor deficiency; congenital myasthenic syndrome type 4c; congenital myasthenic syndrome type id
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 Congenital myasthenic syndrome 4C.
Explore research for Congenital myasthenic syndrome 4C
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