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WHAT IS

SPINAL MUSCULAR ATROPHY (SMA)?

SMA has a specific cause and is classified into different types, but in order to diagnose the condition, genetic tests have to be performed to confirm it. Find out more about SMA below.

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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.

WHAT IS SMA?

WHAT CAUSES SMA?

Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disease caused by a mutation in the survival motor neuron 1 (SMN1) gene.1 

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WHAT IS SMA?

TYPES OF SMA

SMA is divided into different types according to the age of onset and functional ability. There is also a range of severity within each type.2

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WHAT IS SMA?

HOW IS SMA INHERITED?

SMA is an inherited disease and unlike many other rare neuromuscular diseases, there is a clear understanding of the specific genetic cause of spinal muscular atrophy.3

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WHAT IS SMA?

DISEASES WITH SIMILAR SYMPTOMS

Although SMA is characterised by certain signs and symptoms, there are other conditions presenting with similar symptoms but with different genetic causes.

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WHAT IS SMA?

DIAGNOSING AND TESTING

When SMA is suspected it is important to have the initial diagnosis be confirmed through genetic testing.4

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At Biogen, we are committed to supporting those with spinal muscular atrophy and their care team. Our hope for Together in SMA is that, by providing information, we can help you to get the most up-to-date care, and to help guide conversations with your doctors.

WHAT IS SMA?

WHAT CAUSES SMA?

Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disease caused by a mutation in the survival motor neuron 1 (SMN1) gene1 

>Read more

WHAT IS SMA?

TYPES OF SMA

SMA is divided into different types according to the age of onset and functional ability. There is also a range of severity within each type.2

>Read more

WHAT IS SMA?

HOW IS SMA INHERITED?

SMA is an inherited disease and unlike many other rare neuromuscular diseases, there is a clear understanding of the specific genetic cause of spinal muscular atrophy.3

>Read more

WHAT IS SMA?

DIAGNOSING AND TESTING

When SMA is suspected it is important to have the initial diagnosis be confirmed through genetic testing.4

>Read more

At Biogen, we are committed to supporting those with spinal muscular atrophy and their care team. Our hope for Together in SMA is that, by providing information, we can help you to get the most up-to-date care, and to help guide conversations with your doctors.

At Biogen, we are committed to supporting those with spinal muscular atrophy and their care team. Our hope for Together in SMA is that, by providing information, we can help you to get the most up-to-date care, and to help guide conversations with your doctors.

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.

“The diagnostic process for SMA has not changed since the original consensus statement paper… unless there are previous familial cases, the diagnostic process is generally prompted by the clinical signs.” 4

References

1. Lunn MR, Wang CH. Spinal muscular atrophy. Lancet. 2008;371(9630):2120-2133.

2. Kolb SJ, Kissel JT. Spinal muscular atrophy. Arch Neurol. 2011;68(8):979-984.

3. National Organization for Rare Disorders. Spinal Muscular Atrophy. [online] 2012 [cited 2020 Sep 22]. 
Available from: URL: https://rarediseases.org/rare-diseases/spinal-muscular-atrophy/.

4. EGL Genetics. Congenital Hypotonia Panel: Spinal Muscular Atrophy Deletions, Prader-Willi/Angelman Syndrome Methylation, Myotonic Dystrophy, and Uniparental Disomy 14. Available at: http://geneticslab.emory.edu/tests/HY. Accessed January 9, 2017.

5. 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.