Question: What does C9ORF72 ALS do to the body?

Charlotte Mason answered on 20 May 2020:

It is a motor neuron disease which causes the motor neurons to die. The C9ORF72 gene causes a problem inside the motor neuron cells which causes them to die. Motor neurons connect your muscles to your brain, and as the motor neuron cells die the signal that goes from your brain asking your muscles to move isn’t able to get there. If you arn’t able to move a muscle it gets weaker and therefore smaller causing muscle weakness. It becomes difficult to walk, stand, move your hands, hold your head up, speak and eventually as the motor neurons connecting to the muscles in your chest die it becomes very difficult to breath. Eventually patients are unable to breath on their own which often is the main cause of death.