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. This can make it difficult to use the large muscles in the arms, legs and torso, as well as muscles in the face, nose and throat. 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 appears within the first six months of the child’s life, and unfortunately, most children with this type have recently only lived for a few years. Disease modifying treatments became available in the past few years.
Type 2: It appears between six months and 18 months of the child’s life. A child with this type can sit independently but cannot walk. Most children with this type live into adulthood but may have scoliosis and other complications.
Type 3: This type is also called Kugelbert-Welander disease or juvenile-onset SMA. It appears in childhood or early adulthood and causes mild weakness in muscles and eventually difficulty walking or standing. It 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:
- Muscle weakness
- Frequent falls
- Difficulty swallowing, talking and breathing
What Causes Spinal Muscular Atrophy?
Spinal Muscular Atrophy is an autosomal recessive genetic disease, 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 motor neurons in the spinal cord 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 and the Cure SMA foundation.
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 a Cure SMA Care Center of Excellence.
Providers
Locations
We serve you in the Rochester metropolitan area and surrounding region.
1 location
Ambulatory Care Center at Strong Memorial Hospital
601 Elmwood Avenue, 1st Floor
Rochester, NY 14642