Generally affecting babies and kids, Spinal Muscular Atrophy (SMA) is a condition that makes it hard for younger ones to use the muscles they have. The illness occurs when the nerve cells within the spinal cord and brain break down; therefore, the brain refrains from sending the messages around muscle movement and control.
As a result, a baby or child’s muscles weaken and shrink, making it difficult to control head movement, sit without assistance, and in some cases, walk as well. A child may even have issues around breathing or swallowing, as the illness progresses.
Below is an outline of the types of SMA, signs and symptoms of the condition, causes of the disease, as well as a variety of treatment options at a patient’s disposal.
Majority of this information has been provided by the Muscular Dystrophy Association (United States).
Signs & Symptoms
It’s important to note that SMA is categorized in “types”, and symptoms will vary depending on this. As such, and much like many other illnesses out there, each individual diagnosed with the condition has a different experience with the disease.
Below are the types of SMA, and the signs and symptoms linked to each rank of the illness:
- Type 1: Listed as the most severe type of the condition, those who suffer from this form of SMA may not be able to sit or support their head without assistance. They may have floppy legs and arms, and deal with issues around swallowing. Sadly, an even greater concern around this type of SMA is breathing control; most little ones with this condition don’t live past the age of 2.
- Type 2: Also referred to as chronic infantile SMA, youngsters aged six to 18 months old are affected by this category of the condition, and signs and symptoms can be moderate to severe. They generally involve legs more than a baby’s arms, and a child might be able to stand, walk, or sit with assistance.
- Type 3: Sometimes referred to as juvenile SMA or Kugelberg-Welander disease, signs and symptoms for this type tend to develop in children two to 17 years of age. Known as the mildest form of the condition, a child will likely be able to walk and stand without assistance, but can have issues when it comes to climbing, getting up from a chair, or running. As patient’s grow older, a wheelchair may be needed for them to remain mobile.
- Type 4: This type of the condition tends to commence in adulthood, with signs and symptoms centering around twitching, muscle weakness, or breathing problems; generally, in the upper legs and arms.
Causes
SMA is a genetic condition that is passed down through family trees; therefore, if your baby or child has developed the disease it is due to two copies of a faulty gene that have been received from each parent.
When this occurs, an individual’s body can’t make a certain type of protein; as such, control muscles deceases, and the condition takes over.
Should a child get one broken gene from only one parent, then they won’t develop SMA; however, if they end up having children, they may pass it on to them.
As this is a condition that primarily affects little ones, the condition can be hard to diagnose. To figure out whether or not there is a need for concern, ensure you book an appointment with your family physician if you see any indicators that may be off with your infant, baby, or child. Some questions the doctor may ask, include:
- Has your little one missed any major developmental milestones for their age (i.e. rolling over, holding their head up?
- Does your child have issues standing or sitting on their own?
- Has your little one ever had issues around breathing?
- When did you notices signs first emerging?
- Has anyone in your family been diagnosed with SMA?
Treatment Options
While there is no cure for the condition, there are a plethora of treatment options that can help improve the quality of a patient’s life. As there are various “types” of SMA that are linked to signs and symptoms, decisions around procedures and treatments will depend on a patient’s diagnosis.
Some SMA treatment options include:
1. Mouthpiece Or Mask: This treatment is used for patients who suffer from types 1 or 2 of SMA, and deal with breathing issues. Masks or mouthpieces can help keep air from easily flowing in and out of a child’s lungs; however, if they have severe trouble breathing, a machine could be used to assist with breathing.
2. Swallowing: For those babies and toddlers who have issues sucking and swallowing due to muscle problems in their throat and mouth, some doctors suggest that parents work with a nutritionist to help with the problem and come up with viable solutions.
3. Occupational and Physical Therapy: This SMA treatment focuses on keeping muscles strong and protecting a patient’s joints using regular daily activities, as well as exercises. Walkers, wheelchairs, and braces may also be suggested by a therapist to help with a patient’s mobility.
4. Back Brace: Doctors often suggest back braces for youngsters who develop SMA when they are children, as the spine is still growing. When they reach adulthood and have finished “growing”, a doctor may suggest surgery to repair the back issue.
Source: Muscular Dystrophy Association https://www.mda.org/disease/spinal-muscular-atrophy
