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HOW TO GET

DIAGNOSED

Timing of diagnosis is crucial for spinal muscular atrophy because early diagnosis may lead to early supportive care and reduction in patient and caregiver stress. 1

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.

IT IS IMPORTANT TO HAVE SMA DIAGNOSED BY A GENETIC TEST2

It is often difficult to diagnose spinal muscular atrophy (SMA) based on symptoms alone. 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

This genetic test, referred to as an SMA gene-deletion test looks for specific alterations in your DNA.3-5

95-98% of clinically diagnosed SMA patients, have an alteration in their SMN1 gene.5

The SMN gene-deletion test is performed by several diagnostic laboratories. It can take approximately 2–4 weeks to receive results, although this may vary by centre.4 If you have already had this test, speak to your doctor to ensure you receive the most appropriate care.

DNA = deoxyribonucleic acid

THE IMPORTANCE OF HAVING A GENETIC TEST

1.

Delays in diagnosis are common, which can potentially impact your care options1
2.

You may be eligible for care options that are suited to a specific genetic diagnosis6
3.

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 treatment7
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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.

References

1. Lin CW, Kalb SJ, Yeh WS. Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review. Pediatr Neurol 2015;53:293-300.

2. Mercuri E, et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord 2018;28(2):103-115.

3. Bharucha-Goebel D, Kaufmann P. Treatment Advances in Spinal Muscular Atrophy. Curr Neurol Neurosci Rep 2017;17(11):91.

4. Wang CH, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol 2007;22(8):1027-1049.

5. Prior TW, Finanger E, Leach ME. Spinal muscular atrophy. NCBI Bookshelf Website. [online] 2019 Nov 14 [cited 2010 Aug 24]. Available from: URL: https://www.ncbi.nlm.nih.gov/books/NBK1352/.

6. Visser J, et al. Mimic syndromes in sporadic cases of progressive spinal muscular atrophy. Neurology 2002;58(11):1593-1596.