Causes of Spinal Muscular Atrophy

By
Peter Evans
-

3Roles of SMN1 and SMN2 Genes

There are two SMN1 gene copies in our body. Each of them is passed down from the parent. On the other hand, there are many SMN2 gene copies. The SMN1 gene is responsible for the production of most SMN protein, whereas the SMN2 gene only plays a small part. When a mutation occurs in the SMN1 gene, it would increase the risk of inherited SMA in the babies. The number of SMN2 genes will affect the severity of the condition. If you have many SMN2 gene copies, they would still produce SMN protein, thus leading to mild cases. Nevertheless, when the number of SMN2 genes is low, symptoms can be more serious. [3]

Related Articles

Angelman Syndrome – Symptoms and Causes

Ailments & Conditions
Angelman syndrome is a genetic condition that causes considerable intellectual and developmental disability, sleep problems, and movement issues. Kids with this disorder tend to have some distinctive symptoms and features. However, it can be hard to diagnose them once...

Klinefelter Syndrome – Facts to Know

Ailments & Conditions
What Is Klinefelter Syndrome? Klinefelter syndrome is a common genetic disorder. It leads to abnormal developments only in males. Currently, the average time to diagnose this condition is in the mid 30s. However, many people still remain undiagnosed during their...

Spinal Muscular Atrophy – Diagnosis & Treatments

Ailments & Conditions
Spinal muscular atrophy is a rare genetic condition that can affect motor neurons in your spinal cord. This leads to weakness or deterioration of the muscles needed for movement. In most cases, symptoms tend to occur at birth or...

Spinal Muscular Atrophy Symptoms

Ailments & Conditions
Spinal muscular atrophy or SMA is a genetic disease. It causes muscles to become emaciated and weak over time. Most cases can be diagnosed in young children or babies. Currently, there is still no cure for the condition. However,...

What is Marfan Syndrome?

Ailments & Conditions
What Is Marfan Syndrome? Marfan syndrome is a genetic connective tissue condition. It would affect the usual development of the body because connective tissue plays a key role in supporting the skeletal structure and other body parts. In addition, the...

What is Prader-Willi Syndrome – 10 Facts You Need to Know

Ailments & Conditions
What Is Prader-Willi Syndrome? Prader-Willi syndrome is a genetic condition that can be passed from parents to their children. It is mostly present at birth, but diagnosis usually does not occur until later stages in life. People with this disorder...

Williams Syndrome – Causes, Symptoms, Diagnosis & Treatment

Ailments & Conditions
Williams syndrome is a genetic condition characterized by many developmental issues. This syndrome is quite rare as it only occurs in approximately 1 in 10,000 people. A genetic link is often present in those with this health issue, but...

What is Fragile X Syndrome (FXS)

Ailments & Conditions
What Is Fragile X Syndrome? Fragile X syndrome, also called Martin-Bell syndrome, is a genetic disorder that leads to developmental and intellectual disabilities. It may be passed down to children from their mothers or fathers. It is the most common...