It is rare but with new research there are better ways to diagnose. They have found about 10 mutations now. And most have been in the last 16 years. Affects both men and women with an adult firm and also babies both make and female.
Some information says 1 in 50,000 live births but it could 1 in 100,000 depending on who's info you go by.
Doctors had never seen a person with this disease before me. They said it was very rare. Eventually I found others online and we are a like family. The nemaline myopathy support group on Facebook is a great resource community.
I was born with the condition Nemaline Myopathy & have always had muscle weakness, but I wasn't diagnosed with it until I was 43. I suffer from Ehlers Danlos Syndrome and in my long trail of searching for help and answers for that condition I ended u...
ACTA1 ;mild to severe side; NIV/night, Gtube, spinal curvature >70, surgery never done/considered too risky by local surgs
Complicated labor-ischemic hypoxia
autistic, failure to thrive
used to walk 2 to 5 years
declining :(
Our journey started in 2010 with our first born son and also first born nmer he passed away at 12 days old then our second born son in 2011 also born with nm he passed away at 12 weeks and in 2016 our third born son was also born with nm and its been...