Home - Health - Spinal Muscular Atrophy – Causes, Symptoms, And Management
Spinal muscular atrophy – Causes, symptoms, and management

Spinal muscular atrophy – Causes, symptoms, and management

Spinal muscular atrophy, or SMA, is generally observed in infants and young children. An inherited health disorder, SMA affects the muscles and nerves. Since the disease is degenerative, it causes progressive muscle decline, leading to mild or severe disability. While it is not preventable, it helps to learn all about it to seek timely diagnosis and treatment. To get started, here are some common causes, symptoms, and treatment options for spinal muscular atrophy.

Causes of SMA
The most common forms of SMA, that is, types 0 to 4, are caused by missing or mutated genes.
Under usual circumstances, a gene known as SMN1 releases the SMN protein, which helps the motor neurons to thrive and function properly. But in some cases, the SMN1 gene is mutated or is missing. This usually happens when a child has two copies of the malfunctioning gene, each inherited from one parent.

Therefore, those who have SMA are not able to make enough SMN protein. Subsequently, the motor neurons are unable to grow, and instead, they start to shrink and die out. The overall effect of this is the brain is unable to control most of the voluntary movements, typically involving movement in the neck, arms, head, and legs.

Along with SMN1, the SMN2 gene is also capable of producing a small fraction of the SMN protein. In most cases, a person can have about eight copies of the SMN2 gene. In such situations, the severity of SMA symptoms is decreased since the additional genes do the work of the missing SMN1 gene protein.

Symptoms of SMA
In the cases of spinal muscular atrophy types 0 to 4, the severity of the symptoms can range from mild to intense depending on the amount of functional SMN protein present in the motor neurons. The higher the amount of SMN protein, the later the onset of the symptoms will be. Also, the severity of the symptoms will be milder. In general, the symptoms vary depending on the type of spinal muscular atrophy.

Type 0
Known to be the rarest form of SMA, type 0 has some of the most severe symptoms. These symptoms usually develop during pregnancy. Consequently, the baby does not make enough movements when still in the womb. They are born with weak muscle tone, weak breathing, and joint problems.

Type 1
This type of SMA also has severe symptoms. Usually, a child with type 1 SMA is unable to support their head on their own. Also, they are unable to sit up independently even at the age when they normally would. Some children develop floppy arms and have difficulties with swallowing and breathing.

Type 2
Also known as chronic infantile SMA, type 2 is usually observed in toddlers who are between 6 to 18 months old. The intensity of symptoms can range from mild to severe. Children with type 2 SMA experience weakness in the muscles of their legs. Therefore, they are able to stand, walk, and sit up only with some assistance and help.

Type 3
Also known as Kugelberg-Welander disease or juvenile SMA, type 3 has the mildest symptoms. So, a child may be able to walk and stand without any assistance, but they may find it difficult to get up from a chair, run around, or climb the stairs. As they grow older, children with type 3 SMA require mobility aids and devices such as wheelchairs. Symptoms for this type start when children are between 2 and 17 years old.

Type 4
The symptoms of this type of SMA usually develop during adulthood. Some of the notable signs to watch out for include muscle weakness, twitching, and breathing problems. Most of the time, the muscles of the upper arms and legs are affected as they start to become weak.

Most of the symptoms last throughout the life of the person with SMA. In several cases, one does still have some mobility, and sometimes, the strength of the muscles and range of motion improves with exercise and therapy. In many instances, people with SMA may continue to work for several years despite the symptoms.

Management options
Spinal muscular atrophy does not have any cure. The treatment plans that are usually recommended by doctors are geared towards managing the symptoms, slowing down the disease, and improving the quality of life of the person with SMA. Often, these treatments and management options are developed depending on the type of SMA and the symptoms. Some of the generally recommended management options of SMA include the following.

Mobility devices
These include braces, support devices, and wheelchairs. Doctors recommended these to help a person with SMA maintain independence of movement for as long as possible.

Physical and occupational therapy and rehabilitation
These therapies are recommended to improve the flexibility and strength of the joints affected by SMA. In addition, physical and occupational therapy also help in slowing down the progression of muscle wasting. Besides this, therapies for speech, swallowing, and chewing also help in living with SMA. These ensure that the person is able to feed and breathe well without the risk of asphyxiation.

Ventilation assistance
When SMA affects the capability of a person to breathe, non-invasive ventilation is generally given to avoid the risk of apnea while sleeping. In some cases, assisted ventilation during the daytime may also be needed.

Latest Articles

8 Healthy and Filling Snack Ideas for Kids
Health

8 Healthy and Filling Snack Ideas for Kids

When hunger strikes between meals, it’s important to have healthy and satisfying snacks, especially for growing kids. The stores are flooded with packaged snack options that are tempting and convenient to buy, but most of them contain high sugar levels, empty calories, and add no nutritional value. Instead, one can opt for one of the following snacking options: easy to make, highly flavorful, and provide numerous benefits that boost a child’s development. Crunchy vegetables and hummus Vegetables are another great snack choice, providing essential vitamins and minerals. For example, one can opt for crunchy vegetables like carrot sticks, cucumber slices, bell pepper strips, and cherry tomatoes. Pairing them with a healthy dip such as hummus or yogurt-based dressings can make them more appealing to kids and boost their overall health and energy levels. Yogurt Yogurt is a versatile snack packed with calcium, protein, and probiotics. The live bacteria in the product are highly beneficial for digestion. Packed with nutrients, yogurt is a supportive and tasty snack for developing and strengthening kids’ bones. One should choose plain, unsweetened yogurt and add natural sweetness by mixing fresh fruits or a drizzle of honey. One should avoid store-bought sweetened or flavored yogurt since these products contain high sugar levels. Alternatively, one can freeze yogurt in popsicle molds for a refreshing treat during warmer months. Yogurt may not be advisable, however, for infants below twelve months. Popcorn Another healthy choice for a quick snack is popcorn. This fun and crunchy snack can be ideal for movie night or after-school treats as it is nutritious whole grain rich in fiber. It can also help regulate bowel movements and is rich in antioxidants and low in bad cholesterol. One can drizzle some low-fat butter or cheese on top to make it tastier. Avoid adding too many unhealthy toppings.
17 Healthy Foods for Seniors
Health

17 Healthy Foods for Seniors

To support healthy aging, it is important to prioritize nutrition and lifestyle. Eating well-balanced meals can help one stay energized, get all the nutrients required for performing daily activities, and reduce the risk of chronic health conditions such as heart disease and diabetes. On the other hand, malnutrition can weaken the muscles and bones and leave one vulnerable to diseases. To avoid this, here are some healthy foods seniors must eat regularly. Fatty fish Fatty fish such as salmon, tuna, and mackerel are a great source of proteins and omega-3 fatty acids, which can help protect the body from cardiovascular conditions. Seniors must try to add fatty fish to their meals at least two times a week to improve their health. Those who do not enjoy the flavor of fish may also consider omega-3 fish oil supplements. Skinless poultry Skinless poultry, also known as lean meats, is a great source of protein for seniors. Cuts of chicken and turkey can be prepared with herbs and spices as low-sodium meals, especially for seniors with high blood pressure. Eggs Egg whites are also a great source of protein and heart-healthy nutrients for elders. However, the yolks are rich in cholesterol, so, preparing eggs carefully and eating them in moderation can help seniors boost their health. Dairy products Dairy products are a great source of nutrients, especially calcium and vitamin D. Yogurt is an important probiotic that can help protect the gut biome. However, opt for reduced-fat or skimmed milk options to reduce the consumption of unhealthy fats. Also, avoid buying flavored dairy products as these often contain added sugars and preservatives. Walnuts Walnuts are another excellent source of omega-3 fatty acids, especially for vegans and vegetarians. They are a rich source of fiber and help protect heart health. Almonds Rich in unsaturated fats, almonds can help lower bad cholesterol (LDL) levels, making them a healthy snack or additive to meals.
8 Gardening Mistakes and Ways to Avoid Them
Everything Else

8 Gardening Mistakes and Ways to Avoid Them

Transforming your backyard can be an exciting project. You could create a hangout spot, install sculptures, or even add a garden. However, adding plants to a backyard can require considerable time and effort. If you are taking up gardening for the first time, you do not want to miss key steps that affect the look of the space. So, to help you get started, here are a few gardening mistakes and how to avoid them: Planting excessively You may spend immense amounts of time scrolling through seed catalogs and looking forward to fresh vegetables and sometimes can end up planting too much. A big garden may require a lot of effort and can become overwhelming. So, if you have just taken up gardening, start small. First, shortlist your five favorite vegetables and herbs, and grow them. As you have some success with these plants, introduce new seeds to the space to gradually expand the garden space. Planting too early Seeds require an optimum temperature to sprout and grow. If some seeds thrive in warmer temperatures, the yield may freeze and die if you try to grow them in spring. The seed may also rot without sprouting. So, you must check what climates are suitable for each type before spreading them across the garden. One of the best ways to avoid planting earlier than required is to buy a good soil thermometer and note the usual first and last frost dates in your area to avoid this period for starting a garden. Overlooking the soil type Another mistake to avoid is planting seeds without checking whether the soil is loamy. If your backyard does not have loamy soil—rich in silt, clay, sand, and organic matter—the seeds will get sufficient nourishment, and the saplings may grow weak and perish quickly. So, before you start a garden, ensure you amend the soil to make it ideal for plant growth.