with Lilah
Age: 3* SMA Type 1
with Benjamin
Age: 4* SMA Type 2
with Dominic
Age: 5* SMA Type 2
with Morgan
Age: 3* SMA Type 2
*Age at time of filming
Know what
to look for
to look for
isn’t right. Noticing muscle
weakness early can make
the difference.
Recognize the signs of SMA
If you’re worried about your child’s physical development, it may be helpful to understand some of the signs and symptoms of SMA.
What is SMA?
Spinal muscular atrophy (SMA) is characterized by muscle weakness and loss of muscle. Since there is a genetic component, it can be passed from parent to child. However, parents rarely know that they are carriers.
Does your child show any of these red flags?
Act early by talking to your child’s doctor if your child:
At 2 months
- Has difficulty breathing or chest and breath are out-of-sync
- Has rapid tongue movements (fasciculations)
- Doesn’t bring hands to mouth
- Can’t hold head up when pushing up on tummy
At 4 months
- Can’t hold head steady
- Doesn’t push down with legs when feet are placed on a hard surface
- General muscle weakness as shown by “frog-leg posture”
At 6 months
- Doesn’t try to get things that are in reach
- Has difficulty bringing things to mouth
- Doesn’t roll over in either direction
- Seems very floppy, like a rag doll
At 9 months
- Doesn’t bear weight on legs with support
- Doesn’t sit with help
- Doesn’t transfer toys from one hand to the other
At 12 months
- Doesn’t crawl
- Can’t stand when supported
- Loses skills they once had
At 18 months
- Can’t walk
- Loses skills they once had
For more information about the signs and symptoms of SMA, click here.
REFERENCES
- Oskoui M et al. Spinal muscular atrophy: 125 years later and on the verge of a cure. In: Sumner JC, Paushkin S, Ko CP, ed. Spinal Muscular Atrophy Elsevier; 2017: 3-19.
- Prior TW. Strategy for the molecular testing of spinal muscular atrophy. In: Sumner JC, Paushkin S, Ko CP, ed. Spinal Muscular Atrophy Elsevier; 2017: 63-71.
- Centers for Disease Control and Prevention. CDC’s developmental milestones. Available at: www.cdc.gov/ncbddd/actearly/pdf/checklists/Checklists-with-Tips_reader_508.pdf.
Accessed April 26, 2019.
Know what
to ask
to ask
with physical development,
it’s important to be prepared
to discuss with your doctor.
Ask the right questions
If your child shows signs of muscle weakness or other signs of SMA, it’s time to speak up.
Speak to your doctor as soon as possible if you’re worried about your child’s physical development. Here are a few questions you might want to ask:
- My child has little head control.
Is that normal at their age? - My child is not reaching _____ milestone.
Should I be concerned? - I find my child is showing signs of muscle weakness. What do you think?
- Does my child appear to be breathing correctly?
- Is my child choking too often?
- Should I be testing my child for SMA?
Keep track of the signs and symptoms you’re observing to discuss with your doctor.
Download questions for discussion.
Testing for SMA
If your doctor is concerned that your child may have SMA, there are a couple of tests that healthcare professionals can use to confirm a diagnosis of SMA.
Genetic tests
There are two genetics tests that can be performed in a lab to confirm SMA. They will determine if the patient has a deletion or point mutation in the gene responsible for SMA.
- About 95% of patients with SMA have two copies of the deletion.
- Only 5% of affected patients have other types of point mutations.
REFERENCES
- Oskoui M et al. Spinal muscular atrophy: 125 years later and on the verge of a cure. In: Sumner JC, Paushkin S, Ko CP, ed. Spinal Muscular Atrophy Elsevier; 2017: 3-19.
- Prior TW. Strategy for the molecular testing of spinal muscular atrophy. In: Sumner JC, Paushkin S, Ko CP, ed. Spinal Muscular Atrophy Elsevier; 2017: 63-71.
- Centers for Disease Control and Prevention. CDC’s developmental milestones. Available at: www.cdc.gov/ncbddd/actearly/pdf/checklists/Checklists-with-Tips_reader_508.pdf.
Accessed April 26, 2019.
