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Know More About Spinal Muscle Atrophy: Causes, Symptoms, and Treatments

Spinal Muscle Atrophy, abbreviated as the SMA comprises of neuromuscular disorders that affect the motor neurons and thereby interfere with the muscular movements of the body.

By Madison FletcherPublished 4 years ago 4 min read
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Spinal Muscle Atrophy, abbreviated as the SMA comprises of neuromuscular disorders that affect the motor neurons and thereby interferes with the muscular movements of the body. The condition mainly disturbs the normal functioning of both the central as well as the peripheral nervous system. The frequency of occurrence of this condition is 1 out of 7000 to 1 out of 10,000. The condition may affect individuals of any age but is one of the most frequently occurring genetic conditions among infants and children. The condition affecting adults is infrequent and rare.

Since SMA directly affects the voluntary muscles, the affected individuals lose their abilities to continue normal physical activities and may be partially or completely immobile. These children need special attention, as well as thorough medical attention to monitor their muscular degeneracy. With the advancements in medical science, the range of treatments available for Spinal Muscle Atrophy has been modified. However, the updated and recent treatment procedures for SMA, though helpful, is estimated to be $375,000.

1. What is Spinal Muscular Atrophy?

Spinal Muscular Atrophy is also recognized as 5q Spinal Muscular Atrophy. The autosomal recessive disorder causes progressive degeneration of skeletal muscles. The condition mainly results from genetic mutations which can be caused due to environmental changes or metabolic factors.

The condition can be categorized into five different types, which are:

Type 0: Also known as Prenatal Onset SMA, the condition is considered to be the most extreme among the five types. The condition starts affecting fetuses in the womb of the mother and can be life-threatening. The fetus shows reduced movement and affected heartbeat. If born, the baby might face difficulty in breathing, as well as swallowing. In most cases, the fetus is stillborn or does not make it till birth. In case the baby is born, the condition proves to be extremely fatal during the first year of life.

Type 1: This severe form of Spinal Muscular Atrophy is also known as Werdnig-Hoffmann Disease which usually affects children during birth or in the first half of the year. Primary noticeable symptoms are difficulty in swallowing or gulping of milk and breathing. In the later months, the baby is unable to balance the head and shall not be able to sit. The infants are extremely prone to respiratory infections due to rapidly progressing conditions and are unable to survive after 2 years of age.

Type 2: This is an intermediate form of SMA, in which the affected individual faces difficulty in the lower limbs mostly. The condition affects infants between 7 months to 18 months of age and progresses but not rapidly. Although respiratory infections are common, life expectancy is fair and may extend up to adulthood.

Type 3: This mild form of SMA is also termed as Kugelberg-Welander. The condition mostly affects infants above 18 or 19 months of age and does not largely affect the life expectancy of the affected. Though the child may be able to walk and perform normal activities, difficulties while doing certain strenuous activities will be common, with an unaltered risk of respiratory infections.

Type 4: This type of SMA particularly affects adults above 20 years or 30 years of age. Although the affected individuals are able to continue with normal activities, yet muscle degeneracy renders them weak.

2. Causes for Spinal Muscular Atrophy

Spinal Muscular Atrophy is mostly caused due to genetic anomaly which can affect fetuses, infants, children and adults at any point in their lifetime. In particular, Chromosome 5 Spinal Muscle Atrophy is a deficiency disorder that is caused due to insufficient amounts of SMN protein in the body. Also known as Survival of Motor Neurons, this particular protein is responsible for the survival and functioning of the motor neurons and is thus able to regulate voluntary responses of the body. Mutational changes, particularly deletion of exon 7 in the SMN1 genetic composition result in the faulty synthesis of the protein.

The genetic composition of the SMN1 gene is almost similar to that of SMN2, which thereafter compensates for the deficiency or loss of the former. The amount of compensation provided by the latter thereby determines the severity of the condition.

3. Treatments and Symptoms of Spinal Muscular Atrophy

For many decades, the treatments for Spinal Muscular Atrophy was not developed. Though conventional therapies were implemented for easing the symptoms of the condition in order to extend the life expectancy of the affected individual, no direct cure was ever found. The recent medical progression has henceforth made it possible to alter genetic mutations so that the muscular degeneracy can be delayed. Drugs like businessmen, commercially known as Spinraza as well as onasemnogene abeparvovec-xioi, commercially known as Zolgensma are capable of altering the genetic incompatibility of both SMN1 as well as SMN2 and thereby reduce the symptoms of the condition manifold.

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About the Creator

Madison Fletcher

Madison Fletcher is a Sr Content Writer, having more than 10 years of experience and globally recognized expertise in the domains of health and digital technology.

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