Researchers discovered a new genetic disorder that interferes with muscle control and movement.
The condition, known as Mutation in NAMPT Axonopathy syndrome, damages motor neurons, which are the nerve cells responsible for transmitting signals from the brain and spinal cord to muscles.
It develops from a rare mutation in a key protein called NAMPT that supports the body’s ability to produce and use energy.
When this protein malfunctions, cells cannot generate enough energy to maintain normal function.
As energy levels drop, affected cells gradually weaken and die, leading to symptoms such as muscle weakness, coordination problems, and foot deformities that can become more severe with time.
In advanced cases, individuals may lose mobility and require the use of a wheelchair.
“Although this mutation is found in every cell in the body, it seems to primarily affect motor neurons,” Ding, a professor in Mizzou’s College of Engineering, said. “We believe nerve cells are especially vulnerable to this condition because they have long nerve fibers and need a lot of energy to send signals that control movement.”
