Spinal Muscular Atrophy – Diagnosis & Treatments

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 within the first few years of life. People with this disease might be limited in their ability to move and muscle strength. There are also some problems with feeding, swallowing, or breathing. Below are all that you need to know about diagnosis and treatment for spinal muscular atrophy.

1Spinal Muscular Atrophy Diagnosis

Genetic Testing

Since spinal muscular atrophy is a genetic condition, genetic testing can help diagnose this condition. It is able to find out an alteration or mutation in the SMN1 gene located on chromosome 5. A simple non-invasive blood test should be completed to do this test. In addition, genetic testing can measure the number of SMN2 gene copies on chromosome 5. If you have few copies, it can be a sign of spinal muscular atrophy in early life. [1]


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...

Causes of Spinal Muscular Atrophy

Ailments & Conditions
Spinal muscular atrophy is a progressive neurodegenerative condition. This rare genetic disease is often triggered by mutations or alterations in the genes that produce...

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...

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...

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...

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,...

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...