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Living with SMA

Information, shared experiences and research connections for people living with SMA and those who support them.

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Understanding SMA

SMA is a genetic condition that causes weakness and shrinking of the muscles used for movement, often most in the muscles closest to the center of the body.

The most common form is caused by changes in the SMN1 gene, which lead to the loss of motor neurons; SMA has several types (0 through IV) that differ in when symptoms start, from before birth to adulthood, and in how severe they are.

Signs & symptoms

Symptoms depend a lot on the type of SMA, but can include:

  • Muscle weakness and muscle wasting
  • Weakness that tends to get worse over time
  • Shaking (tremor) in the fingers
  • Curving of the spine (scoliosis)
  • Weak breathing muscles
  • Trouble swallowing

Tell your care team about new or changing symptoms.

Diagnosis

  1. Exam and history

    A doctor looks at muscle strength, movement and when symptoms began, which also helps point to the type of SMA.

  2. Genetic blood test

    A blood test can look for changes or missing pieces in the SMN1 gene.

  3. Other tests if needed

    Tests such as electromyography, nerve conduction studies or a muscle biopsy may be used to rule out conditions that look similar.

Care & treatment

Treatment
There are FDA-approved treatments for SMA, including medicines that help the body make more SMN protein and a gene therapy for young children; which one fits depends on age and type.
Support
Physical and occupational therapy, assistive devices, good nutrition and, when needed, feeding tubes or breathing support can help with daily life.
Your plan
Because SMA types differ, care is planned around each person's needs and is often shared by a team of specialists.

Discuss benefits, risks and follow-up with your care team.

Everyday life

Keeping good records helps your team see changes over time:

  • Note changes in strength, breathing, swallowing and movement milestones between visits.
  • Keep genetic test results and a list of treatments and dates in one place.
  • Ask your therapists which equipment and home changes could make daily tasks easier.
Bring these questions to your next doctor visit
What type of SMA is this, and what does that mean for care?
Which treatment options fit my or my child's age and type, and how will we know if they are working?
How should we watch breathing, swallowing and spine health over time?
Sources: NIH GARD — Spinal muscular atrophy · NINDS — Spinal muscular atrophyPage drafted from NIH sources · Know Rare editorial review pending. General information to support conversations with your care team.

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Explore research for SMA

Explore actively recruiting SMA studies with HealthSpark.

HealthSpark

Find actively recruiting studies for SMA with HealthSpark. Share your city to explore research near you.

  • Phase 3 studies first, with nearest research center
  • Study information from ClinicalTrials.gov
  • Eligibility is confirmed by the study team

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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

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