What is CMS?
I should’ve posted this first! Forgive me…
It is a rare neuromuscular disorder. It is NOT Myasthenia Gravis…which is much more common and commonly mistaken for CMS. It is from the same family of diseases. However, CMS is congenital and MG is an autoimmune disorder that causes similar symptoms and similar problems at the Aceticholine receptors of the muscles.
To put it very basically and not at all scientific… If I exert my muscles too much, the ACh receptors have difficulty talking to my muscles and they become weak. Once that happens, I have to wait for the receptors to decide to wake up again for my muscles to start working!
Luckily my form of CMS has a treatment. Albuterol. If I take albuterol I can do almost anything! Although I still have fluctuations in strength, it is nowhere near how it was when I was younger and did not have treatment.
Here’s a little pamphlet that was published my Muscular Dystrophy Association. (That’s me and my dog on the cover…) this will explain it better.
NORD (National Organization for Rare Disorders) has a web page on Myasthenia Gravis that includes discussion of CMS:
Here’s an excerpt I copied and pasted that summarizes CMS very generally from a website:
Congenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion. The muscle weakness typically begins in early childhood but can also appear in adolescence or adulthood. Facial muscles, including muscles that control the eyelids, muscles that move the eyes, and muscles used for chewing and swallowing, are most commonly affected. However, any of the muscles used for movement (skeletal muscles) can be affected in this condition. Due to muscle weakness, affected infants may have feeding difficulties. Development of motor skills such as crawling or walking may be delayed. The severity of the myasthenia varies greatly, with some people experiencing minor weakness and others having such severe weakness that they are unable to walk.
Some individuals have episodes of breathing problems that may be triggered by fevers or infection. Severely affected individuals may also experience short pauses in breathing (apnea) that can lead to a bluish appearance of the skin or lips (cyanosis).
In a later blog I will detail the tests I underwent to find a diagnosis…