Spinal Muscular Atrophy Is A Group Of Genetic Diseases That Can Damage And Kill Motor Neurons In The Spinal Cord And Brain

Spinal Muscular Atrophy

Spinal Muscular Atrophy (SMA) is an inherited disease that weakens the muscles in the body that control movement. It generally affects the muscles closest to the center of the body, including the shoulders, hips and thighs. It can lead to a curve in the spine and serious breathing problems.

Most forms of SMA are caused by a missing or defective gene called survival motor neuron 1, or SMN1. This gene provides instructions for creating a protein that helps nerve cells that control movement function properly. Without this protein, the motor neurons atrophy and die.

The Spinal Muscular Atrophy Market is anticipated to reach a value of US$ 1,600.6 million in 2022 and grow at a CAGR of 13.3% from 2022 to 2030.

The gene makes the survival motor neuron protein (SMN). Without enough SMN protein, motor neurons degenerate, and muscles get weaker. Type 3 SMA typically causes muscle weakness in early childhood. People with this form may need a wheelchair later in life.

A genetic test can identify mutations in the SMN1 gene and determine whether the individual is a carrier of the disorder. A blood test can also detect the condition by measuring levels of creatine kinase, an enzyme that is released when muscle cells break down.

A person with Spinal Muscular Atrophy loses muscle function as the disease progresses. This includes the muscles that help with breathing and swallowing. Infants with the most severe forms of SMA, which are due to mutations in the SMN1 gene on chromosome 5, die from respiratory failure by age 1 or 2.

In older people, muscle loss is accelerated by injury, illness and periods of inactivity. This is called sarcopenia and can lead to weakness and falls.

Most scoliosis is caused by undiagnosed problems with the spine that appear in adolescence. Most curves are mild and do not require treatment, whereas if the curvature is over 25 degrees, a brace will be recommended to prevent progression. Surgery may be necessary for scoliosis patients who are experiencing pain and other symptoms.

In all types of Spinal Muscular Atrophy, weakness and wasting of muscles that are used for movement worsen over time. Children with severe types of SMA are often unable to crawl, walk or sit up without support. They may develop complications including bone fractures, skeletal abnormalities, contractures and scoliosis. Without treatment, most affected children die before age 2.

In most cases of SMA, a gene called SMN1 is mutated or missing. When SMN1 is missing, the protein it makes does not work properly and motor neurons degenerate. In the most severe form of SMA, type 1, symptoms appear shortly after birth and progress rapidly. Novartis Pharma K.K., has gained approval from the Japanese Ministry of Health, Labour and Welfare, for Zolgensma®, in March 2020. It is used for treating SMA in patients under two years of age.