Spinal Muscular Atrophy with Arthrogryposis Overview

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Learn About Spinal Muscular Atrophy with Arthrogryposis

What is the definition of Spinal Muscular Atrophy with Arthrogryposis?
Spinal muscular atrophy (SMA) with arthrogryposis (congenital joint contracture) is a genetic disorder caused by a progressive loss of motor neurons that is characterized by wasting and severe muscle weakness in the muscles used for movement combined with contractures of the joints. Contractures occur when there is a shortening and hardening of the muscles, tendons, and other tissue that leads to deformity and rigidity of the joints. While there a many types of spinal muscular dystrophy, X-linked infantile spinal muscular atrophy is a form that is combined with congenital joint contractures (arthrogryposis) and only affects boys.
What are the symptoms of Spinal Muscular Atrophy with Arthrogryposis?
Symptoms of spinal muscular atrophy with arthrogryposis (congenital joint contracture) include infants that are often born with multiple joint deformities that cause the joints to be rigid with impaired movement combined with muscle weakness. Since spinal muscular atrophy with arthrogryposis is progressive, the muscle weakness continues to worsen, causing a regression of motor development. Other symptoms of spinal muscular atrophy with arthrogryposis may include an undeveloped chin (micrognathia), curvature of the spine (scoliosis or kyphosis), undescended testicles (cryptorchidism), weak chest muscles, breathing problems, respiratory failure, and difficulty feeding or swallowing.
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What are the current treatments for Spinal Muscular Atrophy with Arthrogryposis?
Since there is no cure for spinal muscular atrophy with arthrogryposis, treatment is mainly focused on managing symptoms and avoiding complications. The drug, nusinersen (Spinraza™), which increases production of the SMN protein that maintains motor neurons, may be administered intrathecally (injected into the spinal fluid) in infants and children and has shown some effectiveness when given early. The gene therapy drug, onasemnogene abeparovec-xioi (Zolgensma ™), may be administered in children with spinal muscular atrophy with arthrogryposis under the age of two and may improve muscle movement and survival. The drug, risdiplam (Evrysdi), may be administered for infants two months of age and older. Other therapeutics may be prescribed, such as physical therapy, occupational therapy, rehabilitation, and speech therapy; assistive devices, such as braces or supports, orthotics, speech synthesizers, and wheelchairs; nutritional therapies and feeding tubes; and non-invasive ventilation.
Who are the top Spinal Muscular Atrophy with Arthrogryposis Local Doctors?
Experienced in Spinal Muscular Atrophy with Arthrogryposis
Dr. Christopher D. Lee
Neurology
Experienced in Spinal Muscular Atrophy with Arthrogryposis
Dr. Christopher D. Lee
Neurology

Vanderbilt Medical Group- Teleneurology

1161 21st Ave South, A-0118 Medical Center North, 
Nashville, TN 
615-936-0060
Languages Spoken:
English
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. Dr. Lee is rated as an Experienced provider by MediFind in the treatment of Spinal Muscular Atrophy with Arthrogryposis. His top areas of expertise are Myasthenia Gravis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Spinal Muscular Atrophy (SMA), Guillain-Barre Syndrome, and Gamma Knife Radiosurgery.

Distinguished in Spinal Muscular Atrophy with Arthrogryposis
Dr. David Herrmann
Neurology
Distinguished in Spinal Muscular Atrophy with Arthrogryposis
Dr. David Herrmann
Neurology

University Of Rochester

601 Elmwood Ave, 
Rochester, NY 
585-275-2559
Languages Spoken:
English
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David Herrmann is a Neurologist in Rochester, New York. Dr. Herrmann is rated as a Distinguished provider by MediFind in the treatment of Spinal Muscular Atrophy with Arthrogryposis. His top areas of expertise are Charcot-Marie-Tooth Disease, Chronic Inflammatory Demyelinating Polyneuropathy, Peripheral Neuropathy, and Spinal Muscular Atrophy with Arthrogryposis.

 
 
 
 
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Distinguished in Spinal Muscular Atrophy with Arthrogryposis
Dr. Joseph Clark
Neurology
Distinguished in Spinal Muscular Atrophy with Arthrogryposis
Dr. Joseph Clark
Neurology

Penn Neuromuscular Diagnostics LLC

81 Hillcrest Dr Ste 1300, 
Punxsutawney, PA 
814-938-5910
Languages Spoken:
English
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Joseph Clark is a Neurologist in Punxsutawney, Pennsylvania. Dr. Clark is rated as a Distinguished provider by MediFind in the treatment of Spinal Muscular Atrophy with Arthrogryposis. His top areas of expertise are Migraine, X-Linked Infantile Spinal Muscular Atrophy, Spinal Muscular Atrophy with Arthrogryposis, and Spinal Muscular Atrophy Type 2.

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