congenital myasthenic syndrome 6

Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner.

What is congenital myasthenic syndrome 6?

congenital myasthenic syndrome 6 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 6, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with congenital myasthenic syndrome 6

Bulbar palsyDysphagiaEpisodic apnea induced by febrile illness or stressFatigable 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.