Signs and Symptoms

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.

SIGNS AND

SYMPTOMS

SMA has certain characteristics that present at different ages and stages of development. Read more about signs and symptoms below.

SMA IN CHILDREN

SIGNS & SYMPTOMS IN CHILDREN

Spinal muscular atrophy (SMA) is a single-gene disease with a spectrum of clinical presentation,^1,2 which may differ according to type, age of onset and severity.^2,3 People diagnosed with SMA have normal sensory perception, as SMA affects the motor cells in the body not the sensory nerves.³

SMA IN ADULTS

SIGNS & SYMPTOMS IN ADULTS

Is one of your teenager or adult patients reporting muscle weakness? Less severe forms of SMA can emerge and be diagnosed in adulthood.^4,5 Compared to childhood SMA, adult SMA may have milder symptoms, but is still progressive. Compared to SMA in childhood, the course of SMA in adults can be more insidious and difficult to recognise.⁶

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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. Prior TW, Leach ME, Finanger E. Spinal Muscular Atrophy. 2000 Feb 24 [Updated 2019 Nov 14]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: URL: https://www.ncbi.nlm.nih.gov/books/.

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

3. MedlinePlus. Medical Encyclopedia. Spinal muscular atrophy. [online] [cited 2020 Sep 30]. Available from: URL: https://medlineplus.gov/ency/article/000996.htm.

4. Montes J. Spinal Muscular Atrophy in Adults. [online] [cited 2020 Nov 30]. Available from: URL: http://www.neuropt.org/docs/degenerative-diseases-sig/spinal-muscular-atrophy-in-adults.pdf?sfvrsn=8d2aae96_2.

5. Juntas Morales R, Pageot N, Taieb G, Camu W. Adult-onset spinal muscular atrophy : and update. Rev Neurol (Paris) 2017;173(5):308-19.

6. Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol 2007;22(8):1027-49.