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A Caregiver’s Perspective

“I wish I had pushed harder”

A caregiver of a young adult living with SMA and his family’s journey to get to diagnosis.

A Patient’s Perspective

“I’m Normal. Just Different.”

A young adult living with SMA, who was diagnosed as an adolescent and his perspective on life with SMA.

SMA - WHAT IS IT?

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General Disease Information1,2

SMA (Spinal Muscular Atrophy) is a rare genetic neuromuscular disease that affects the part of the nervous system that controls voluntary muscle movement. It is characterized by the degeneration of motor neurons and progressive muscle weakness.

Unlike many other rare neuromuscular diseases, there is a clear understanding of the specific pathway of muscular atrophy. The brain sends signals along the spinal cord via nerve cells called lower motor neurons. In SMA lower motor neurons in the spinal cord and motor nuclei of the brainstem deteriorate such that signals cannot efficiently get through to the muscles making movement difficult. Muscles atrophy (waste away) due to lack of use and lack of innervation.

For more information on the disease, please click here.

The SMA Patient Journey

SMA CAN AFFECT PEOPLE OF ALL AGES.

Once thought to be primarily a childhood disease, SMA can be diagnosed in adolescents, young adults and even those beyond 21 years of age.2

See the different paths of SMA below.

THE SIGNS & SYMPTOMS OF SMA IN ADOLESCENTS & YOUNG ADULTS

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A Caregiver’s Perspective: “I wish I had pushed harder”

LEARN FROM MICHEL

A caregiver of a young adult living with SMA and his family’s journey to get to diagnosis.

Signs & Symptoms for all Types of SMA

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Taking Action: Diagnosing SMA

It’s important to get your condition diagnosed by a genetic test. If you have already had a test, speak to your doctor to ensure you are receiving the most appropriate care.

In order to confirm SMA, a specialist called a neurologist requests a blood test that looks for specific alterations in your DNA – this is also referred to as a gene-deletion test.4,5

It’s critical to get a genetic test done as soon as possible. If there is a delay in the testing and diagnosis of SMA, it can potentially impact your care and treatment.

It could turn out that your condition is not SMA but has similar characteristics of it (e.g. multifocal motor neuropathy). Speak to your doctor to understand what care options are right for your specific condition.6

LIVING WITH SMA AS A YOUNG ADULT

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A Patient’s Perspective: “I’m Normal. Just Different”

LEARN FROM SAMUEL

A young adult living with SMA, who was diagnosed as an adolescent and his perspective on life with SMA.

Importance of Disease Stabilization

Without intervention, people living with Type II/III SMA will see progression of their disease over time, so it’s important to stabilize and maintain motor function as early as possible.7

For people living with SMA, care outcomes today are better than they’ve ever been.

Talk to your doctor today to discuss options for disease stabilization and improvement.

Standards of Care for SMA

A lot has hanged in the quality of care offered to people living with SMA. Ongoing research is providing an ever-increasing understanding of the science behind SMA and care options.8-10

See our summary of the latest SMA standards of care for sitters.

See our summary of the latest SMA standards of care for walkers.

REFERENCES

  1. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3231874/
  2. https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Spinal-Muscular-Atrophy-Fact-Sheet
  3. Schooling DC, Pechmann A, Kirschner J. Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care. Journal of Neuromuscular Diseases (2020); 7(1):1-13
  4. Wang CH, Finkel RS, Bertini ES, et al; and Participants of the International Conference on SMA Standard of Care. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027-1049.
  5. Prior TW, Russman BS. Spinal muscular atrophy. NCBI Bookshelf Website. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1352/. Updated November 14, 2013. Accessed April 15, 2016.
  6. Visser J, van den Berg-Vos RM, Franssen H, et al. Mimic syndromes in sporadic cases of progressive spinal muscular atrophy. Neurology. 2002;58(11):1593-1596.
  7. Kaufmann P, McDermott MP, Darras BT, et al. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology. 2012;79(18):1889-1897.
  8. Mercuri E, Finkel RS, Muntoni F, 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.
  9. Finkel RS, Mercuri E, Meyer OH, et al. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord. 2018;28(3):197-207.
  10. Juntas Morales R, Pageot N, Taieb G et al. Adult-onset spinal muscular atrophy: An update. Rev Neurol (Paris). 2017;173(5):308-319.

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