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All You Need to Know About Spinal Muscular Atrophy (SMA)

What is spinal muscular atrophy?

Types I, II, and III of Spinal Muscular Atrophy (SMA) are a set of inherited disorders that cause weakening and wasting of the voluntary muscles in newborns and children’s arms and legs. The survival motor neuron gene 1 (SMN1), which is essential for the process of a protein vital to motor neurons, is responsible for the diseases.

Lower motor neurons that are present in the spinal cord deteriorate and die without this protein. The age of onset and the severity of symptoms indicate SMA type (I, II, or III).

Type I SMA appears in some of the first weeks of life. All symptoms include floppy limbs and trunk, sluggish arm and leg motions, swallowing and feeding difficulties, and decreased breathing.

Type II (the intermediate form) commonly occurs between the ages of 6 and 18 months. Legs are more severely affected than arms. Type II children may be able to sit, and some may stand or walk with assistance. The extremities are the ones that are most commonly afflicted. Scoliosis and chronic shortening of muscles or tendons around joints are two complications.

These symptoms require immediate attention from the medical professional. If you face these symptoms, you should contact Bajaj health professionals to help you in your treatment journey. Bajaj health card can cover some of the best neurologist in Pune. 

What Is the Cause of SMA?

The SMN1 gene, which is missing or not acting correctly, is the genetic aetiology of SMA. The body cannot produce enough SMN protein required for motor neuron cell survival if this major gene is absent or malfunctioning.

There is the same number of motor neuron cells in all humans, which communicate with muscles and instruct them to perform correctly. Unfortunately, motor neuron cells become weaker and weaker due to lack of SMN protein, eventually stopping working, losing all function, and dying. As a result, everyday activities like breathing, eating, speaking, and lifting the head become difficult. In addition, mutations in the same genes cause several different kinds of spinal muscular atrophy.

SMA Diagnosis

A blood test is available to check for SMN1 gene deletions or mutations. This test detects at least 95% of SMA Types I, II, and III and if a person is carrier of a faulty gene that could be handed down to future generations. Other diagnostic procedures are performed if the SMN1 gene is not determined to be irregular or if the individual’s history and investigation are not typical of SMA. It may include electromyography (which records the electrical activity of the muscles during contraction and at rest), cranial nerve velocity studies (which measure the nerve’s ability to send an electrical signal), muscle biopsy, and some other blood tests. If the SMN1 gene is not determined to be irregular or if the individual’s history and investigation are not typical SMA.

Treatment

SMA has no known cure. The need for treatment is to manage the symptoms while also preventing consequences.

To raise awareness about this genetic disorder, here are some of the most common facts about SMA: 

● In the United States, around one in every 50 people (about 6.6 million* people) is a genetic carrier of SMA, yet most people are unaware of it. A person who possesses a mutation in one copy of a gene but does not have the disease is called a carrier.

● While there is no cure for SMA, the National Institute of Health is optimistic that one will be discovered soon.

● The SMN1 and SMN2 genes are the ones responsible for SMA.SMA Type 1 is among the most common type of SMA, affecting around 6 out of every ten children with the condition. However, at 24 months, just 8% of children with SMA Type 1 in the natural history* were alive and without the need for continuous breathing support.

● The SMN1 gene has a backup gene known as the SMN2 gene. This backup gene can be found in one or more copies in a person. This gene, like SMN1, instructs the body to produce SMN protein. Children with type 2 and type 3 diabetes have a reasonable chance of surviving, but most will use a wheelchair by reaching adulthood. These disorders might be rare but being aware of their symptoms and causes is very crucial for everyone. This article aims to increase general awareness of the SMA. in case you feel any of these symptoms, and you should book an appointment with Bajaj Finserv health.

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