While SMA may be suspected based on symptoms alone, diagnosis is made by genetic testing. Therefore, when a specialist suspects that you might have SMA they will order a genetic blood test that could confirm or rule out their preliminary diagnosis.2 Specialists may include additional tests and investigations during this diagnostic phase.
This genetic test, referred to as an SMN gene-deletion test , looks for specific alterations in your DNA, including whether an SMN1 gene mutation has occurred.3-5
~95-98% of clinically diagnosed SMA patients, have an alteration in their SMN1 gene.5
The SMN gene-deletion test can take anywhere from three days to three weeks to receive the results.4 If you have already had this test, speak to your doctor about appropriate care.
DNA = deoxyribonucleic acid; SMN1 = survival motor neuron 1 gene.
Delays in diagnosis can be common, which may potentially impact your care options1
You may be eligible for care options that are suited to a specific genetic diagnosis
It may rule out SMA. You may have a condition that is not SMA but has similar characteristics (e.g. multifocal motor neuropathy), which may require different treatment6
Watch the interviews with Samuel (patient) and Michel (caregiver) to learn how to recognise some of the first signs of SMA
Please speak to your doctor or healthcare professional for further information about SMA diagnosis.
to learn more about about how to be part of the SMA community
The characters shown are real patients and the required consent to use their stories has been obtained from the patients and families. Photographs are for illustrative purposes only.