Understanding Spinal Muscular Atrophy: Strength, Support, and Progress
Every August, individuals, families, healthcare professionals, researchers, and advocates come together for Spinal Muscular Atrophy Awareness Month.
Spinal muscular atrophy, commonly called SMA, refers to a group of inherited diseases that affect motor neurons, the specialized nerve cells responsible for controlling voluntary muscle movement.
SMA can affect movement, posture, swallowing, speaking, coughing, and breathing. The condition varies widely, and every person’s experience is different.
Awareness helps improve understanding, encourage earlier diagnosis, support affected families, and recognize the strength and individuality of people living with SMA.
The History of SMA Awareness Month
Cure SMA was originally founded in 1984 as Families of Spinal Muscular Atrophy, a volunteer organization dedicated to supporting families and funding research.
The SMA community has officially recognized August as Spinal Muscular Atrophy Awareness Month through an effort coordinated by Cure SMA since 1996. Families and advocates have used the month to host educational events, fundraisers, vigils, legislative outreach, and community activities.
Scientific understanding and available care have changed significantly over the years. Research into the genetic causes of SMA helped create a foundation for disease-modifying treatments and newborn screening efforts.
What Causes SMA?
The most common form of SMA is associated with changes in the survival motor neuron 1, or SMN1, gene.
This gene normally helps the body produce survival motor neuron protein, which motor neurons need to function. When the body does not produce enough of this protein, motor neurons weaken and die. The muscles they control then become weaker.
SMA is usually inherited in an autosomal recessive pattern. This generally means that a child receives a nonworking copy of the gene from each parent.
Parents who carry one altered copy commonly do not have symptoms themselves.
Other, rarer forms of SMA can be caused by changes in different genes.
How SMA Affects the Body
Motor neurons control many voluntary movements. Depending on the type and severity of SMA, a person may experience difficulty with:
- Holding up the head
- Sitting independently
- Standing or walking
- Moving the arms and legs
- Maintaining posture
- Swallowing
- Coughing and clearing secretions
- Speaking loudly
- Breathing effectively
Muscle weakness is often more pronounced in muscles closest to the center of the body, including the trunk, shoulders, hips, and upper portions of the arms and legs.
SMA does not typically affect a person’s ability to think, learn, build relationships, express preferences, or participate meaningfully in family and community life.
People should never be defined by a diagnosis or assumptions about physical ability.
Types of SMA
SMA has traditionally been described by type based on age of onset and the highest physical milestone achieved.
These categories can provide general information, but they do not predict every person’s experience particularly as treatment continues to change the progression of the condition.
Type 1
Symptoms typically begin during infancy. Babies may have significant weakness and difficulty with head control, swallowing, coughing, or breathing.
Type 2
Symptoms commonly begin in early childhood. Children may be able to sit independently but may not stand or walk without assistance.
Type 3
Symptoms may begin later in childhood or during adolescence. Individuals may learn to stand and walk but experience increasing weakness over time.
Type 4
Symptoms generally begin in adulthood and are often milder, with gradual muscle weakness.
Healthcare professionals may also use other classifications based on function, genetics, and treatment history.
Possible Early Signs
Signs vary, but infants or children may show:
- Low muscle tone
- Limited spontaneous movement
- Difficulty lifting or controlling the head
- Delayed motor milestones
- Weak cry
- Difficulty feeding or swallowing
- Bell-shaped chest
- Shallow breathing
- Weak cough
Older children or adults may experience:
- Frequent falls
- Trouble climbing stairs
- Difficulty rising from the floor or a chair
- Muscle weakness
- Tremors in the fingers
- Increasing fatigue during physical tasks
These signs can be caused by many conditions. A medical evaluation and genetic testing are required to diagnose SMA.
Newborn Screening and Early Diagnosis
SMA can cause motor neuron loss before obvious symptoms appear. Because currently available therapies may be most beneficial when started early, newborn screening has become an important part of identifying affected babies.
Families whose child receives an abnormal newborn screening result should be connected promptly with specialists for confirmatory testing and discussion of treatment options.
Treatment and Support
There is currently no single treatment approach appropriate for every person with SMA. Care may involve disease-modifying therapies as well as supportive care.
Depending on individual needs, the care team may include:
- Neurologists
- Pulmonologists
- Primary care providers
- Physical and occupational therapists
- Speech-language pathologists
- Dietitians
- Orthopedic specialists
- Respiratory therapists
- Nurses
- Social workers
- Home care professionals
Support may include respiratory equipment, nutrition assistance, mobility devices, positioning, stretching, communication technology, accessible transportation, or modifications to the home.
NINDS notes that treatments developed through recent research have changed the outlook for many individuals with SMA.
Supporting Individuals and Families at Home
SMA may require complex, coordinated care, but home is also where children grow, families connect, adults pursue goals, and everyday life happens.
Skilled home nursing and caregiving services may help families safely manage:
- Respiratory equipment
- Feeding tubes
- Medication routines
- Positioning and mobility
- Personal care
- Appointments
- School participation
- Community activities
- Respite and family support
At Dakota Home Care, we believe people with complex medical needs deserve care that recognizes the whole person, not only the diagnosis.
Our individualized services support infants, children, adults, and families while helping make home, school, and community participation possible.
For more information, contact us at:
📞701-663-5373
Awareness Begins With Listening
SMA Awareness Month is a time to learn, but it is also a time to listen to people living with SMA and their families.
Ask rather than assume. Respect each person’s communication style, independence, preferences, goals, and expertise in their own life.
Awareness becomes meaningful when it leads to accessibility, inclusion, research, timely diagnosis, and compassionate support.