What is slow channel syndrome?

Slow-channel congenital myasthenic syndrome (CMS) is a rare subtype of CMS caused by dominant “gain of function” mutations in the acetylcholine receptor. Clinically, the cervical and forearm extensor muscles seem to be preferentially weaker; and conventional treatment with anticholinesterases fails to improve symptoms.

What are symptoms of congenital myasthenic syndrome?

In some patients with CMS, the weakness is confined to muscles supplied (innervated) by the cranial nerves causing double vison, droopy eyelids (eyelid ptosis), facial weakness, hypernasal or slurred speech, and swallowing difficulties.

When was congenital myasthenic syndrome discovered?

The first molecular genetic defect resulting in a presynaptic congenital myasthenic syndrome has been reported by Ohno in 2001 [5].

Is myasthenia gravis autosomal dominant?

Congenital myasthenic syndromes (CMS) are typically inherited in an autosomal recessive manner. Less commonly, CMS is inherited in an autosomal dominant manner (Table 3).

How is myasthenic syndrome diagnosed?

If the physical exam is consistent with myasthenia gravis (MG), the neurologist usually orders a blood test designed to detect antibodies to the ACh receptor. A negative test for ACh receptor antibodies in the serum (blood) can help distinguish CMS from MG but doesn’t rule out seronegative MG.

What triggers myasthenia gravis?

Cause of myasthenia gravis Myasthenia gravis is caused by a problem with the signals sent between the nerves and the muscles. It’s an autoimmune condition, which means it’s the result of the immune system (the body’s natural defence against infection) mistakenly attacking a healthy part of the body.

Is congenital myasthenic syndrome hereditary?

Inheritance. This condition is most commonly inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.

How does myasthenia gravis affect the eyes?

Ocular myasthenia gravis only affects the muscles that move the eyes and eyelids. The symptoms of ocular myasthenia gravis include double vision (seeing two images instead of one), trouble focusing, and drooping eyelids.

What is the latest treatment for myasthenia gravis?

The U.S. Food and Drug Administration today approved Vyvgart (efgartigimod) for the treatment of generalized myasthenia gravis (gMG) in adults who test positive for the anti-acetylcholine receptor (AChR) antibody.