Living with Congenital myasthenic syndrome 2A
A rare muscle condition in which weakness gets worse with activity, often starting at birth or in early childhood.
Understanding Congenital myasthenic syndrome 2A
It affects muscles that move the eyes, help with talking and swallowing, and move the arms and legs. It often starts at or soon after birth or in early childhood, though it can start later. Some babies have breathing and feeding problems, weak crying or sucking, choking spells, and droopy eyelids. Older children may tire easily, have trouble running or climbing stairs, and reach milestones late.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness that worsens with activity
- Drooping upper eyelid (ptosis)
- Weak eye muscles (ophthalmoplegia)
- Delayed sitting and walking
- Poor head control
- Poor sucking
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.
- 4Connect with expert centers
Muscular Dystrophy Association may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: Muscular Dystrophy Association
- 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 Muscular Dystrophy Association
- 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 lists autosomal dominant inheritance, meaning one changed copy of a gene can be enough to cause the condition. GARD doesn't name a gene.
Also known as: cms2a; congenital myasthenic syndrome 2a slow-channel; congenital myasthenic syndrome type 2a; myasthenic syndrome, congenital, 2a, slow-channel
Patient organizations
- Muscular Dystrophy AssociationCongenital myasthenic syndrome 2A · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital myasthenic syndrome 2A.
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