Spinal Muscular Atrophy: Types, Symptoms, and Treatment

What is Spinal Muscular Atrophy?

Spinal Muscular Atrophy is a condition that most often affects babies as well as children and makes it hard for them to use their muscles. It is also one of the most common genetic conditions that affect children as estimates claim around 6,000-10,000 children worldwide are born with the condition.

When your child is afflicted by Spinal Muscular Atrophy, there’s a breakdown of the nerve cells in the brain and spinal cord. The brain simply stops sending messages that control muscle movement.

When that happens, the child’s muscles get weak and shrink, and children can have trouble controlling head movement, sitting without help, and even walking. In some cases, they can have trouble swallowing and breathing as the disease gets worse.

We have compiled a list of the types of spinal muscular atrophy, its symptoms, and treatments in this article so keep reading as we explore the intricacies of this incurable disorder. 

Causes for Spinal Muscular Atrophy

Spinal muscular atrophy is a condition that’s passed down through families. If your child has spinal muscular atrophy, it’s because they have two copies of a broken gene, one from each parent. When this happens, their body won’t be able to make a specific kind of protein. Without it, the cells that control muscles die.

If your child gets a faulty gene from just one of you, they won’t get the condition although they will be a carrier of the disease. When your child grows up, they could pass the broken gene to their child.

Types of Spinal Muscular Atrophy

In total, there are 5 main types of Spinal Muscular Atrophy, from Type 0 to Type 4. Spinal Muscular Atrophy symptoms are not necessarily similar across the various types and in actuality; differ a lot. Every one of the types of spinal muscular atrophy happens at a different stage of life and they all have vastly differing symptoms. Taking a look at all of them, we have them;

Spinal Muscular Atrophy symptoms (with their corresponding types)

Type 0. This is the rarest and most severe form of spinal muscular atrophy and develops while you’re still pregnant. Babies with this type of spinal muscular atrophy move less in the womb and are born with joint problems, weak muscle tone, and weak muscles for breathing. They often do not survive due to breathing problems.

Spinal Muscular Atrophy

Type 1. This is also a severe type of spinal muscular atrophy. A child may not be able to support their head or sit without help. They also may have floppy arms and legs as well as have problems swallowing. The biggest concern is a weakness in the muscles that control breathing. Most children with type 1 of the condition don’t live past age 2 because of breathing problems.

Type 2. This affects children 6-18 months old. The symptoms range from moderate to severe and usually involve the legs more than the arms. Although, the child may be able to sit and walk or stand with help. Type 2 is also called chronic infantile spinal muscular atrophy.

Type 3. Also known as Kugelberg-Welander disease, symptoms for this type start when children are 2-17 years old. It’s the mildest form of the disease. The child will most likely be able to stand or walk without help but may have problems running, climbing stairs, or getting up from a chair. Later in life, they may need a wheelchair to get around.

types of spinal muscular atrophy

Type 4.  This form of spinal muscular atrophy starts when you’re an adult. You may have symptoms such as muscle weakness, twitching, or breathing problems. Usually, only your upper arms and legs happen to be affected.

You’ll have the symptoms throughout your life, but you can keep moving and even get better with exercises that you’ll practice with the help of a physical therapist.

Spinal Muscular Atrophy Treatment

As mentioned before, spinal muscular atrophy doesn’t have a sure-footed cure yet although there are multiple treatments individuals can opt for from gene therapy to doctor-recommended practices. Although treatment will not cure the condition, it helps lessen the effects and sometimes also help in the complete removal of symptoms which makes spinal muscular atrophy more bearable. 

Common Spinal Muscular Atrophy treatments

spinal muscular atrophy symptoms
  • Breathing. With spinal muscular atrophy, especially types 1 and 2, weak muscles keep air from moving easily in and out of the lungs. If this happens to the child, they may need a special mask or mouthpiece. For severe problems, your child may use a machine that helps them breathe. 
  • Movement. Physical and occupational therapy, which use exercises and regular daily activities, can help protect the child’s joints and keep muscles strong. A therapist may suggest leg braces, a walker, or an electric wheelchair. Special tools can control computers and phones and help with writing and drawing.
  • Back Issues. When the condition begins in childhood, children can get a curve in their spine. A doctor may suggest that the child wears a back brace while their spine is still growing. When they’ve stopped growing, they may have surgery to fix the problem.

Aside from these practices, doctors recommend getting gene therapy which acts as medications for spinal muscular atrophy. For example, risdiplam and nusinersen, both of which are forms of gene therapy that affect the genes involved in the condition. 

The SMN1 and SMN2 genes give your body instructions for making a protein that helps with controlling muscle movement.

Things to keep in mind.

Always remember that every child or adult who has Spinal Muscle Atrophy will have a different experience. No matter how much a child’s movement is limited, the disease doesn’t affect their intelligence in any way. They will still be able to make friends or socialize.

There’s no cure, but treatments can improve some symptoms and, in some cases, help the child live longer. Researchers are still working to find new ways to fight the disease.

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