Guide To Spinal Muscular Atrophy Types And Treatment

Spinal muscular atrophy (SMA) affects an individual's strength and ability to move. This disease does it by targets their spine's motor cells. Currently, this condition affects one in every eleven thousand individuals. Additionally, approximately one in every fifty Americans is a genetic carrier. The effects this condition has on patients range. Patients can have an average life expectancy. However, they will lose their ability to walk unassisted (or at all). Other patients will eventually lose their ability to eat, speak, and breathe!

Patients have many SMA treatment options, though there is currently no permanent cure for spinal muscular atrophy. Medication is a significant treatment. However, the largest treatment is gene therapy for spinal muscular atrophy. Of course, doctors must first determine what type of spinal muscular atrophy is affecting their patient.

Type 1

Spinal muscular atrophy type 1 is the most common form! It is also called Werdnig-Hoffman disease. Symptoms of this form appear by the time infants reach six months old. Many of them will even have symptoms immediately when they are born! The symptoms of this condition affect their ability to move. Weakened muscle tone in the infant's extremities is quite common. It is also hard for affected infants to breathe, eat, and swallow. They will not be able to sit without assistance! The same applies to raising their head.

Thankfully, this condition does not affect their cognitive abilities. Infants will still be alert and responsive! They need a team of doctors and other health professionals to handle their care. This includes checking on their respiratory health!

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Type 2

Spinal muscular atrophy type 2 is another form that affects infants. However, babies develop symptoms after they reach six months old. They appear between this time and twelve months old! Children with this form need assistance and support to sit up. They also need help to walk and stand! They cannot do so without it. This is because, like spinal muscular atrophy type 1, their leg muscles are not strong enough to support them.

Children with this form develop more symptoms as time passes. They have issues eating and breathing! Most children cannot do more than sit up independently when it comes to motor skill milestones. They even lose this ability during their adolescence. Patients with this form experience finger tremors, scoliosis, hip dysplasia, and other skeleton abnormalities.

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Type 3

Spinal muscular atrophy type 3 is a mild form. However, patients still experience severe and permanent effects! It is a rarer form as well. Patients develop symptoms of this form between early childhood and adolescence. The requirement for being diagnosed with this type is when symptoms develop. They have to develop after individuals learn to walk! Otherwise, it is another form.

Many researchers split this form into two subtypes. The first is comprised of patients who develop symptoms between one and three years old. The second subtype includes patients who develop symptoms after they turn three years old. The first symptoms of this form are patients struggling to walk, run, or get up the stairs. Muscle weakness in this type starts in the legs and hips. However, it progresses to the shoulders and arms!

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Type 4

Spinal muscular atrophy type 4 is the adult-onset form of this condition. The symptoms begin in an individual's late teenage years, but before they reach twenty years old. Symptoms are noticed when individuals are in their twenties and thirties. Most patients are diagnosed between thirty-five and forty years old. A patient's genes are why they do not experience symptoms as children. Patients with this form of the condition have either four or six copies of the SMN2 gene. This gene compensates for the mutations that cause this condition in younger patients.

The gene is also why patients with this form have milder symptoms than those with another form. Patients start to experience mild weakness in their hip and leg muscles. This will move to their arms and shoulders over time. However, this form of the condition has a range of effects. Many patients walk short distances but require mobility aids. Others need a wheelchair because they lose their ability to walk!

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Gene Therapy

Spinal muscular atrophy patients need gene therapy as part of their treatment. They receive treatment that replaces the defective or missing SMN1 gene. This is a one-time treatment! After gene therapy, patients have a working copy of the gene. It restores some of the motor function, especially in their spine!

Individuals with this condition who undergo gene therapy have a higher survival rate. They also have fewer permanent complications! However, the United States Food and Drug Administration has only approved this treatment for children under two years old. Older children and adults with this condition are not currently included in this!