English to Russian Medical Other

FOR INDIVIDUALS LIVINGWITH SPINAL MUSCULAR ATROPHY AND THEIR FAMILIES.
Genetics of SMA
SMA AND GENETICS
Spinal muscular atrophy (SMA) is often referred to by several terms, including “genetic disease,” ‘’autosomal recessive genetic disorder,” “motor-neuron disease,” or ‘’neuromuscular disease.”
SMA is a genetic disease.
“Genetic” means it is relating to the genes and is inherited.
Genes are responsible for our traits and unique characteristics.
In SMA, there is a mutation in a gene responsible for the survival motor neuron (SMN) protein, a protein that is critical to the function of the nerves that control normal muscle movements.
SMA is an autosomal recessive genetic disorder.
“Autosomal recessive” refers to how the disease is inherited, or passed down, from the parents to the child.
In SMA, the individual who is affected by SMA inherits two copies of a non-working gene—one copy from each parent.
SMA is a motor-neuron disease.
“Motor-neuron” refers to the type of nerve cell that sends messages to and from muscles responsible for movement and control of the head, neck, chest, abdomen, legs, and limbs.
In SMA, the motor-neurons in the spinal cord do not have enough SMN protein.
As a result, these motor-neurons do not function normally and may die, resulting in muscle weakness and atrophy (shrinkage).
SMA is a neuromuscular disease.
A “neuromuscular disease” affects the neuromuscular system.
This can include problems with the nerves that control muscles, the muscles, and the communication between the nerves and the muscles.
Neuromuscular diseases can cause muscles to become weak and **waste away**.
INTRODUCTION TO GENETICS
What is DNA?