Understanding Spinal Muscular Atrophy: August is SMA Awareness Month

Abilities Recovery Center
Jul 28, 2025
3 min read

Updated: Jul 29, 2025

August marks Spinal Muscular Atrophy (SMA) Awareness Month, a time to educate, advocate, and support individuals and families affected by this rare genetic neuromuscular condition. SMA may be uncommon, but its impact on lives and communities is deeply significant. By raising awareness, we take an essential step toward better understanding, earlier diagnoses, and improved access to care and resources.

What Is Spinal Muscular Atrophy?

Spinal Muscular Atrophy is a genetic disorder that affects the motor neurons, nerve cells in the spinal cord and brainstem that control muscle movement. When these cells are lost or damaged, the body’s muscles become weaker and waste away (atrophy) over time. SMA most commonly affects infants and children but can also appear in adulthood.

SMA is caused by a mutation in the SMN1 gene (survival motor neuron 1), which is responsible for producing a protein essential for motor neuron survival. Without enough of this protein, motor neurons degenerate, leading to progressive muscle weakness and loss of movement.

"According to the National Institutes of Health (NIH), SMA affects approximately 1 in 6,000 to 1 in 10,000 live births, and about 1 in 40 to 1 in 50 people are carriers of the defective gene. NIH - Genetics Home Reference"

Types of SMA

There are several types of SMA, classified by the age of onset and the highest physical milestone achieved:

Type 1 (Werdnig-Hoffmann disease): The most severe and common form, appearing in infancy. Babies may never sit up independently.
Type 2: Appears between 6 and 18 months. Children may sit but not walk unaided.
Type 3 (Kugelberg-Welander disease): Typically develops after 18 months. Individuals may walk initially but can lose that ability over time.
Type 4: Adult-onset SMA, usually with milder symptoms and slower progression.

All types of SMA are inherited in an autosomal recessive pattern, meaning a child must inherit two copies of the faulty gene, one from each parent. Genetics Home Reference - NIH

Symptoms and Diagnosis

Common symptoms of SMA include:

Muscle weakness (especially in the legs and arms)
Difficulty breathing or swallowing
Poor muscle tone (floppiness)
Limited mobility or motor development delays

Diagnosis typically involves a genetic blood test to detect mutations in the SMN1 gene, as well as neurological examinations, EMG (electromyography), and muscle biopsies in some cases.

Advances in Treatment

Though SMA was once considered untreatable, major scientific breakthroughs have changed that narrative in recent years:

Spinraza® (nusinersen): An FDA-approved drug that increases production of the SMN protein using a backup gene (SMN2).
Zolgensma® (onasemnogene abeparvovec-xioi): A one-time gene therapy for children under 2 years old, approved by the FDA in 2019.
Evrysdi™ (risdiplam): An oral treatment approved in 2020 that boosts SMN protein levels systemically.

💊 According to the FDA, early diagnosis and treatment significantly improve outcomes and help preserve motor function. U.S. Food and Drug Administration

Living with SMA

Living with SMA is a lifelong journey that often involves a team of medical and therapeutic support, including:

Physical and occupational therapy to maintain mobility and function
Respiratory support to aid in breathing
Nutritional support to ensure healthy development
Assistive devices for mobility, communication, and independence

Community support and access to adaptive fitness and rehabilitation can also empower individuals to stay active and connected.

How You Can Support SMA Awareness

Educate yourself and others about SMA and its impact.
Donate or volunteer with organizations like Cure SMA (www.curesma.org) and Muscular Dystrophy Association (www.mda.org).
Advocate for newborn screening laws and accessible treatment options.

Final Thoughts

SMA Awareness Month is not only about highlighting a rare condition, it’s about recognizing strength, amplifying voices, and pushing for a future where early diagnosis, advanced care, and equity are standard. Whether you're part of the SMA community or an ally, your support makes a lasting difference.