congenital myasthenic syndrome 4A

A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.

What is congenital myasthenic syndrome 4A?

congenital myasthenic syndrome 4A is a medical condition. A condition is a disease, disorder, or abnormal state that affects the body or mind. This page provides educational information only and is not a diagnosis.

If you think you may have congenital myasthenic syndrome 4A, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with congenital myasthenic syndrome 4A

Bulbar palsyDysphagiaEpisodic apnea induced by febrile illness or stressFatigable weaknessLimb muscle weaknessOphthalmoparesisPoor suckRespiratory insufficiency due to muscle weakness

When to seek medical care

Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.