Abstract
Congenital myasthenic syndromes (CMS) are rare autosomal recessive disorders of neuromuscular transmission. They manifest early, but although treatable, they often remain unrecognized.
In our region, CMS with mutations of CHNE gene, is well known, being particularly common in gypsy ethnic group. However, there are also other, much more severe forms, complicated by respiratory failure.
We present three CMS patients who suffered from respiratory crises in early age. The outcome was variable – the boy died at 6 months of age, a 7-year old girl needs nocturnal ventilatory support and walks 10 meters, an adult patient has minimum complaints.
In two patients, mutations in COLQ were confirmed as a cause of CMS, and COLQ CMS is suspected in the third one. Decomposition of acetylcholine at synapsis is disrupted in COLQ CMS.
The synapsis is overloaded, therefore, syntostigmine as well as acetylcholinesterase inhibitors make the symptoms worse. The treatment of choice is ephedrine.
Apnea monitor and resuscitation training in parents can be life-saving. In cases where both patogenic mutations are known, prenatal or preimplantation diagnostics are available.