Making treatment possible

What is SELENON?

The SELENON (formally SEPN1) Related Myopathies (SELENON-RM) are a group of rare progressive congenital myopathies which alter an individual’s ability to synthesize Selenoprotein. Clinical symptoms of SELENON-RM may resemble other congenital muscular dystrophies (CMD), especially those involving spine rigidity. The key clinical features of SELENON-RM (weak axial muscles, early respiratory insufficiency while still ambulant) will differentiate it from other forms of CMD.

The first symptoms of those born with SELENON-RM are likely decreased muscle tone and/or floppiness with gross motor skills, such as crawling or rolling over, being delayed or not achieved.  Muscle weakness is likely most noticeable in the neck and trunk, and simple transitions such as raising the head, lying down, standing, and sitting can be challenging and sometimes not possible without assistance. It can also make chewing and swallowing difficult and tiresome, requiring some individuals to need feeding tubes to maintain proper nutrition.

Walking is typically achieved, but can become difficult due to spine rigidity and rapidly developing scoliosis.  Diaphragm weakness causes respiratory insufficiency while laying down for individuals as young as one years old, leading to nocturnal hyperventilation that requires night time ventilation.  

Since 2020, Giving Strength Inc has raised over one million dollars for SELENON research.