Spinal Muscular Atrophy
The Neurology & Neuromuscular Care Center provides comprehensive, multidisciplinary care for individuals living with Spinal Muscular Atrophy (SMA), a genetic neuromuscular disorder. SMA is a complex and progressive condition, and early intervention and coordinated care are critical. Because medications for the disease are not cures but are disease modifiers, SMA patients need to continue receiving the standard of care throughout their lives. We work closely with patients and families to create personalized treatment plans and provide access to the latest treatment advances and clinical research. Our multi-disciplinary team provides compassionate, personalized care regardless of insurance situation.
What is SMA?
Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder that causes progressive muscle weakness due to the loss of specialized nerve cells called motor neurons. These motor neurons, located in the spinal cord, control voluntary muscle movement such as crawling, walking, swallowing, and breathing.
When motor neurons deteriorate, muscles do not receive the signals they need to function properly. Over time, this leads to muscle atrophy (shrinking), weakness. SMA can affect children and adults of any age, and the severity can vary widely. Since SMA is part of newborn screening, 95% of patients can be diagnosed and treated within the first few months of life.
What Causes SMA?
SMA is caused by mutations in the SMN1 (Survival Motor Neuron 1) gene. This gene is responsible for producing a protein essential for the health and survival of motor neurons.
When the SMN1 gene is missing or not functioning properly, the body cannot produce enough survival motor neuron (SMN) protein. As a result, motor neurons degenerate and die, leading to progressive muscle weakness.
SMA is inherited in an autosomal recessive pattern, meaning a child must inherit one faulty gene from each parent to develop the condition, most of the time. Parents are typically carriers and often do not show symptoms.
How Common is SMA?
SMA affects approximately 1 in 10,000 live births, making it one of the more common rare genetic disorders. About 1 in 40 to 1 in 60 people are carriers of the SMA gene mutation.
Because newborn screening for SMA is now implemented across the U.S., early identification has improved significantly, allowing treatment to begin before symptoms appear in some infants.
What Are the Symptoms of SMA?
Symptoms vary depending on the type and severity of SMA but generally involve muscle weakness that affects the arms, legs, trunk, and breathing muscles.
Common symptoms include:
Floppy or low muscle tone (hypotonia) in infants
Delayed motor milestones (such as sitting or walking)
Progressive muscle weakness
Difficulty swallowing or feeding
Weak cough
Respiratory complications
Fatigue and reduced endurance
In more severe forms, symptoms may begin in infancy and affect breathing and feeding early in life. In milder forms, weakness may not appear until adolescence or adulthood. It is important to note that individuals with SMA typically have normal cognitive development.
How is SMA Diagnosed?
SMA is diagnosed through a combination of clinical evaluation and genetic testing.
Diagnosis may include:
A physical exam to assess muscle tone, strength, and reflexes
Review of developmental milestones
Genetic blood testing to detect mutations or deletions in the SMN1 gene
Electromyography (EMG) or nerve conduction studies (less common today due to the availability of genetic testing)
How Do You Typically Treat SMA?
While SMA was once considered untreatable, major advances in genetic medicine have dramatically changed the outlook for patients.
Treatment strategies may include:
Disease-modifying therapies
Medications that increase production of the SMN protein or replace the faulty gene have transformed care and can significantly improve strength and survival, particularly when started early.
Respiratory support
Monitoring and support for breathing muscles, including non-invasive ventilation if needed.
Nutritional support
Management of feeding and swallowing challenges to ensure proper growth and nutrition.
Physical and occupational therapy
To maintain mobility, flexibility, and independence.
Orthopedic management
Monitoring for scoliosis and joint contractures.
At the Neurology & Neuromuscular Care Center, our team provides multi-disciplinary care across neurology, respiratory, and physical therapy to ensure patients receive comprehensive support at every stage of life. With early diagnosis and access to modern therapies, many individuals with SMA are now achieving milestones that were once thought impossible.
Hazel and Hadley’s story
Contact
Phone: (972) 982-7411
FAX: (972) 982-7610
Email: newpatient@neuromdcenter.com
Business Hours:
Monday – Friday
9AM- 5PM By Appointment Only
1651 Justin Rd.
Flower Mound, TX 75028
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