06/09/2021
, Spinal Muscular Atrophy Symptoms
Symptoms vary a lot, depending on the type of SMA:
Type 0. This is the rarest and most severe form of SMA and develops while you’re still pregnant. Babies with this type of SMA 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.
Type 1. This is also a severe type of SMA. A child may not be able to support their head or sit without help. They may have floppy arms and legs and problems swallowing.
The biggest concern is weakness in the muscles that control breathing. Most children with type 1 SMA don't live past age 2 because of breathing problems.
Keep in touch with your medical team, family members, clergy, and others who can help give you the emotional support you need while your child fights this disease.
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. Your child may be able to sit and walk or stand with help.
Type 2 is also called chronic infantile SMA.
Type 3. Symptoms for this type start when children are 2-17 years old. It's the mildest form of the disease. Your 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.
Type 3 is also called Kugelberg-Welander disease or juvenile SMA.
Type 4. This form of SMA 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 are 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.
It's important to remember that there's a lot of variation in the way this type of SMA affects people. Many people, for instance, are able to keep working for many years. Ask your doctor about ways to meet with others who have the same condition and know what you're going through
Spinal Muscular Atrophy Causes
SMA is a disease that's passed down through families. If your child has SMA, 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 SMA but will be a carrier of the disease. When your child grows up, they could pass the broken gene to their own child.
Spinal Muscular Atrophy Diagnosis
SMA can be hard to diagnose because the symptoms may be similar to other conditions. To help figure out what's going on, your doctor may ask you:
Has your baby missed any developmental milestones, such as holding their head up or rolling over?
Does your child have trouble sitting or standing on their own?
Have you seen your child have trouble breathing?
When did you first notice the symptoms?
Has anyone in your family had similar symptoms?
Your doctor may also order some tests that can help make a diagnosis. For example, they may take a blood sample from your child to check for missing or broken genes that can cause SMA. Your doctor could also order a blood test that checks for creatine kinase (CK). It’s an enzyme that leaks out of weakening muscles. High blood CK levels aren’t always harmful but do show possible muscle damage.
Other tests rule out conditions that have similar symptoms:
