What Are The Treatments And Types Of Spinal Muscular Dystrophy?

Spinal muscular atrophy (SMA) seems to be the type of disease that makes it harder for individuals to move. Patients also appear to have a harder time using their strength if they have this condition. It seems to affect one in eleven thousand individuals. However, one in fifty individuals may be genetic carriers. Although patients may have an average life expectancy, their physical condition may not be great. Many of them will likely lose their ability to walk. The progressive loss of the ability to eat, speak, or breathe is also possible.

Patients may not have a cure for spinal muscular atrophy. They seem to be able to undergo gene therapy for spinal muscular atrophy. Medication may also be helpful. However, the overall effectiveness of SMA treatment may depend on the type of this disease a patient has. Thus, it appears to be beneficial to understand the differences between them.

Type 1

Type 1 appears to be the most common form of spinal muscular atrophy. Some doctors may also call it Werdnig-Hoffman disease. Signs of this form may appear when infants are born, though they may also take until they are six months old. The symptoms seem to affect an infant's ability to move. They seem to struggle with weak muscle tone. This is likely to be common in their extremities. Some may find it hard to eat and breathe as well as move. Infants with this form may not be capable of raising their head or sitting without assistance.

Parents may need a team of doctors to help with all of their baby's needs. This will likely include regular checkups for their respiratory health. They may also need to pay extra attention to providing a sage and comfortable way for their baby to sleep. Although this condition is physically tough, it does not seem to affect an infant's cognitive abilities. They still appear alert and responsive.

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Type 2

The second type may also have symptoms start during infancy. These infants, however, seem to develop them after they reach six months old. They should appear before they are twelve months old. These babies may be able to sit up without needing support. However, they seem to be unable to walk or stand on their own. This appears to be because of weak muscle tone in their legs. In other words, their leg muscles are likely to be too weak to support them.

Babies affected with this type may eventually have issues eating and breathing. The reason appears to be due to the nerve cells degenerating over time. The degeneration may also cause babies to not hit certain milestones for their motor skills. As mentioned, they may only be able to sit up on their own. However, they can lose the ability to do so. This may happen in their adolescence. Patients may also encounter finger tremors, scoliosis, and similar issues.

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Type 3

Many individuals believe that the third type is a mild form of this disease. This does not appear to change the fact that it is still likely to severely affect patients. These effects may also be permanent. Patients with this type seem to develop symptoms after they turn one year old. However, these symptoms may appear during their childhood or adolescence. One of the only clear rules for this condition seems to be that the symptoms have to start after patients have learned to walk.

Some doctors will use two subtypes for this form of spinal muscular atrophy. The difference is the time when symptoms develop. The first subtype typically has symptoms develop before a patient turns three years old. The second should include those individuals whose symptoms appear after they turn three. The symptoms for both, however, may be the same. Parents may notice their child having issues walking, running, or getting up stairs first. The muscle weakness in this form can start in the legs and hips. This appears to be the reason for the problems they have with walking. The weakness may spread to the shoulders and arms over time.

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Type 4

Type 4 may also be referred to as adult-onset spinal muscular atrophy. It appears as if symptoms of this type present after adolescence. The most common time looks to be in the patient's twenties or thirties, though in their late teens may be possible. Most doctors seem to diagnose patients between thirty-five and forty years old. Research seems to indicate that patients with this form have either four or six SMN2 gene copies. This appears to be why their symptoms will not develop when they are children. The gene copies should compensate for the mutations that trigger this condition. These copies may also help lessen the physical effects of this disease.

Similar to the other types, patients may start experiencing mild muscle weakness in their legs and hips. This weakness can progress to their arms and shoulders. There appears to be a wide range of severity in this form. Some individuals may be able to walk short distances. They may need to use a mobility aid occasionally. However, others may need to use a wheelchair as they can lose the ability to walk.

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Gene Therapy

Gene therapy appears to be a decent treatment for spinal muscular atrophy. Patients may be given a one-time treatment, which should replace the missing or defective gene. The working copy in this therapy may give them at least some of their motor function back. It should let their body create more motor neuron proteins. These proteins should help the spine's motor cells function.

It seems as if patients who have gene therapy have a better survival rate than those who do not. They may also have fewer permanent complications than the other individuals with this condition. Unfortunately, this treatment may only be approved for patients under two years old.