SMA (spinal muscular atrophy) is a neuromuscular disorder caused by a genetic (inherited) mutation that causes muscles to weaken and waste away. Spinal muscular atrophy causes the loss of motor neurons, a kind of nerve cell that controls muscle movement in the spinal cord. Muscles do not receive nerve signals that cause them to move unless these motor neurons are present. Atrophy is a medical term that means “to shrink.” Due to a lack of use, specific muscles in spinal muscular atrophy become smaller and weaker.
A person with Spinal Muscular Atrophy inherits two copies of the survival motor neuron 1 (SMN1) gene, either absent or defective (mutated). One defective gene is inherited from the mother, while the other is inherited from the father. A single image of the flawed gene that causes Spinal Muscular Atrophy might exist in an adult and go unnoticed.
Spinal Muscular Atrophy is classified into four categories:
Spinal Muscular Atrophy patients either lack a component of the SMN1 gene or have a mutated gene. A properly functioning SMN1 gene generates the SMN protein required for motor neurons to survive and function properly.
Motor neurons in people with SMA (Spinal Muscular Atrophy) degenerate and die because they don’t produce enough SMN protein. As a result, the brain loses its ability to govern voluntary motions, particularly those involving the head, neck, arms, and legs.
SMN2 genes produce a tiny bit of SMN protein in people as well. An SMN2 gene can be discovered in up to eight copies in a single person. Since these extra genes compensate for the missing SMN1 protein, having several copies of the SMN2 gene usually results in less severe Spinal Muscular Atrophy symptoms. Non-SMN gene mutations (non-chromosome 5) are a rare cause of Spinal Muscular Atrophy.
Symptoms of Spinal Muscular Atrophy vary by kind. In general, patients with Spinal Muscular Atrophy lose muscle control, movement, and strength as the disease progresses. Muscle loss worsens as you become older. The muscles closest to the torso and neck are the most severely affected by the condition. Some Spinal Muscular Atrophy patients never walk, sit, or stand. Others lose their capacity to perform these tasks over time.
Spinal Muscular Atrophy can be challenging to identify since its symptoms are similar to other illnesses or medical disorders. Spinal Muscular Atrophy is typically diagnosed after a kid exhibits muscle weakness and loss of muscle tone.
If your doctor suspects Spinal Muscular Atrophy, he or she may conduct the following tests to confirm the condition:
Prenatal diagnostics can detect if your unborn child has Spinal Muscular Atrophy if you’re pregnant and have a family history of the condition. These tests raise the chance of a miscarriage or pregnancy loss by a small amount. Spinal Muscular Atrophy prenatal screenings include:
Amniocentesis: Your obstetrician will inject a thin needle into your tummy to extract a small amount of fluid from the amniotic sac during amniocentesis. A pathologist (lab specialist) examines the fluid for Spinal Muscular Atrophy. This procedure is done only after the 14th week of pregnancy.
Chorionic villus sampling (CVS): A tiny tissue sample from the placenta is removed by your obstetrician through the mother’s cervix or stomach. A pathologist examines the piece for signs of Spinal Muscular Atrophy.
There is currently no complete cure for Spinal Muscular Atrophy. However, the revelation of the genetic etiology of Spinal Muscular Atrophy has led to the development of a gene replacement therapy called Zolgensma and two medications named businesses (Spinraza) and risdiplam that alter the genes involved in Spinal Muscular Atrophy(Everfi). Based on various variables, the medical team will jointly decide on the most appropriate treatment plan:
Nusinersen (Spinraza): This medication modifies the SMN2 gene, allowing it to produce more protein. Both children and adults with Spinal Muscular Atrophy can benefit from it. The medicine will be injected into the fluid surrounding your child’s spinal cord by their medical staff. This can take at least 2 hours, including preparation and recovery time, and must be repeated numerous times, with another dose every four months. According to studies, it benefits roughly 40% of people who use it by making them stronger and reducing the progression of the disease.
Gene therapy for SMA (Zolgensma): This necessitates the replacement of the problematic SMN1 gene. It’s for kids under the age of two. Your child’s medical team will insert a catheter, a small tube, into a vein in their arm or hand (an IV). Next, they’ll inject a copy of the SMN gene into a specific set of motor neuron cells via the tube. This will only have to be done once. In studies, the onasemnogene abeparvovec-xioi aided children with Spinal Muscular Atrophy in achieving developmental goals such as head control and sitting without assistance.
Risdiplam (Evrysdi): This therapy prevents the SMN2 genes from interfering with protein creation, allowing the protein to reach the nerve cells when required. Once a day, after a meal, your youngster will take it orally. Their weight determines the dosage. In clinical trials, 41% of people who took it saw an improvement in muscular function after 12 months.
Spinal Muscular Atrophy is a genetic disorder. A genetic counselor can discuss your child’s risks of developing Spinal Muscular Atrophy or being a carrier if you or your spouse carry the faulty gene that causes Spinal Muscular Atrophy.
You may be able to decrease your chance of passing on Spinal Muscular Atrophy by taking precautions before pregnancy. Preimplantation genetic diagnosis (PGD) identifies embryos that do not carry the mutant gene. During in vitro fertilization, your doctor places healthy embryos in your uterus (IVF). Your child will have two healthy SMN1 genes and will not develop Spinal Muscular Atrophy due to PGD.
If you need to be treated for SMA, go and visit Realign Spine and book an appointment.