Kyla and Congenital Myasthenic Syndrome

Kyla has a Congenital Myasthenic Syndrome. Congenital myasthenic syndromes (CMS) are inherited muscular disorders resulting from genetic flaws at the neuromuscular junction, where the nerve and muscle cells communicate. CMS is categorized by the part of the neuromuscular junction affected:
Presynaptic (the nerve cells)
Postsynaptic (the muscle cells)
Synaptic (the space between the nerve and muscle cells)
Kyla has a Postsynaptic CMS
Postsynaptic CMS symptoms can range from mild to severe. Symptoms in infancy include severe muscle weakness, feeding and respiratory problems, and delays in motor milestones such as sitting, crawling and walking. Childhood or adult onset symptoms may include difficulty raising the eyelids (ptosis) and fatigue, but usually they don't interfere with daily living.
Treatment depends on the form of congenital myasthenic syndrome (CMS). Drugs used to treat one form of CMS may be harmful if used to treat a different form.
Although CMS shares many symptoms with myasthenia gravis, CMS is a congenital disease, not an autoimmune disease, so it won't respond to immunosuppressant drugs or other therapies used to treat myasthenia gravis.
Kyla's form of CMS is caused by a defect in rapsyn, a protein needed to concentrate the receptor of the neuromuscular junction; this type of CMS also responds to cholinesterase inhibitors (Mestinon) and 3,4-diaminopyridine.
Kyla currently takes Mestinon.