Spinal Muscular Atrophy (SMA)
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What is Spinal Muscular Atrophy (SMA)?
Spinal muscular atrophy is an inherited neuromuscular disease that causes muscle weakness and deterioration. It is very rare and affects about one in 6,000 to 10,000 children.
Types of Spinal Muscular Atrophy
Type 1: Approximately 60% of people with SMA have this type. It is also called Werdnig-Hoffman disease. It appears within the first six months of the child’s life, and unfortunately, most children with this type only live for a few years.
Type 2: This type is also known as Dubowitz disease. It appears between six months and 18 months of the child’s life and mostly affects their legs. Most children with this type live into adulthood.
Type 3: This type is also called Kugelbert-Welander disease or juvenile-onset SMA. It appears in childhood or early adulthood and creates mild weakness in muscles. Over time, it can cause difficulty walking or standing, but does not generally affect life expectancy.
Type 4: This is the rarest form and appears in adulthood. The muscle weakness progresses very slowly.
What Are the Symptoms of Spinal Muscular Atrophy?
Symptoms will vary based on the type of the disease and progress with age. Most common symptoms include:
- Loss of muscle control
- Difficulty with movement
- Weakness of muscles
What Causes Spinal Muscular Atrophy?
Spinal Muscular Atrophy is genetic, and those with the disease have a mutated or missing SMN1 gene. This gene is needed for motor neurons to function correctly. Without this gene, the brain can’t control movement, especially in the head, neck, arms, and legs.
UR Medicine's Treatments for Spinal Muscular Atrophy (SMA)
The University of Rochester Spinal Muscular Atrophy Care Center provides the most up-to-date multidisciplinary care to our patients. We treat individuals with SMA of all ages and at all stages of disease, including newborns diagnosed through the New York State Newborn Screening Program.
We focus on all aspects of disease including diagnosis with genetic confirmation, genetic and family counseling, treatment, prevention and management of secondary symptoms and complications, access to clinical research studies and treatment trials, and coordination of care with schools and other providers.
Our specialized SMA team includes neuromuscular neurologists, pulmonologists (pediatric and adult), physical therapists, nurses, nurse practitioners, genetic counselor, social workers, orthopedic surgeons (pediatric and adult), nutritionists, clinic coordinators, and specialty pharmacy.
What Sets Us Apart?
Our team of experts specialize in what’s needed to care for all forms of childhood and adult neuromuscular disease. We coordinate care tailored to the needs of patients and families, in partnership with the Muscular Dystrophy Association.
As part of an academic medical center, our clinicians are also active in research, serving as Principal Investigators for national and international multi-center trials. UR Medicine has been home to:
- NIH-funded Wellstone Muscular Dystrophy Cooperative Research Centers
- PPMD Duchenne Muscular Dystrophy Center
- SMA Cures Center of Excellence
- An NIH-funded Inherited Neuropathies Consortium Rare Diseases Clinical Research Network site
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