The age of onset, severity of symptoms and level of functional ability, determine the type of SMA of each patient. Every SMA patient is affected differently, and up to 25% cannot be clearly assigned to a specific type.1
The genetic deficit underlying spinal muscular atrophy is well characterised. The survival motor neuron 1 (SMN1) gene produces SMN protein, expressed in the spinal cord and known to be essential for motor neuron survival.2,3
SMA has certain characteristics that present at different ages and stages of development. Read more about signs and symptoms below.
SMA is a hereditary disease with a well-characterised genetic cause.1,2,4 SMA is an autosomal recessive genetic disease in which two deleted or mutated SMN1 genes are inherited—1 from each parent.5
SMA has a single genetic cause, but the way in which it presents and progresses, and what each patient needs varies widely. Clinical specialties of every patient diagnosed with SMA will vary according to each patient’s individual needs.3,6
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.
“When I got the diagnosis, I was 16, going on my 17, I took it pretty good because it was putting a name on what I had.”
- Samuel, living with SMA
Together in SMA was created in support of that unity, and with the goal of becoming a valued tool for members of the team. Here you’ll find clinical information and care strategies that some people use to help manage the disease.
Biogen is building on our legacy of rare disease research and development to explore potential treatment options. And even then, we’ll still be together in SMA.
1. Kolb SJ, Kissel JT. Spinal muscular atrophy. Arch Neurol 2011;68(8):979-984.
2. Lunn MR, Wang CH. Spinal muscular atrophy. Lancet. 2008;371(9630):2120-2133.
3. Darras BT, Royden Jones H Jr, Ryan MM, De Vivo DC, eds. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach. 2nd ed. London, UK: Elsevier; 2015.
4. Lefebvre S, Bürglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80(1):155-165.
5. National Organization for Rare Diseases. Spinal muscular atrophy. [online] 2012 [cited 2016 Apr 17]. Available from: URL: http://rarediseases.org/rarediseases/spinal-muscular-atrophy/.
6. 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.