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?
Advanced in Spinal Muscular Atrophy with Arthrogryposis
Dr. Katherine D. Mathews
Neurology | Pediatrics | Pediatric Neurology
Advanced in Spinal Muscular Atrophy with Arthrogryposis
Dr. Katherine D. Mathews
Neurology | Pediatrics | Pediatric Neurology

State University Of Iowa

200 Hawkins Dr, 
Iowa City, IA 
319-356-1616
Languages Spoken:
English
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Accepting New Patients

Katherine Mathews is a Neurologist and a Pediatrics provider in Iowa City, Iowa. Dr. Mathews is rated as an Advanced provider by MediFind in the treatment of Spinal Muscular Atrophy with Arthrogryposis. Her top areas of expertise are Limb-Girdle Muscular Dystrophy Type 2I, Limb-Girdle Muscular Dystrophy, Dystrophinopathy, and Friedreich Ataxia. Dr. Mathews is currently accepting new patients.

Cheng Her
Experienced in Spinal Muscular Atrophy with Arthrogryposis
Dr. Cheng Her
Family Medicine
Experienced in Spinal Muscular Atrophy with Arthrogryposis
Dr. Cheng Her
Family Medicine

Viaro Professional Arts Ltd Health Care

230 Pine St, 
La Crosse, WI 
608-668-2103
Languages Spoken:
English
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Cheng Her is a primary care provider, practicing in Family Medicine in La Crosse, Wisconsin. Dr. Her is rated as an Experienced provider by MediFind in the treatment of Spinal Muscular Atrophy with Arthrogryposis. His top areas of expertise are Cerebral Palsy, Abruzzo-Erickson Syndrome, Yunis-Varon Syndrome, and Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant.

 
 
 
 
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Craig Nielsen
Advanced in Spinal Muscular Atrophy with Arthrogryposis
Dr. Craig Nielsen
Internal Medicine
Advanced in Spinal Muscular Atrophy with Arthrogryposis
Dr. Craig Nielsen
Internal Medicine

Cleveland Clinic Main Campus

9500 Euclid Avenue, 
Cleveland, OH 
216-444-2200
Experience:
36+ years
Languages Spoken:
English
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Offers Telehealth

Craig Nielsen is a primary care provider, practicing in Internal Medicine in Cleveland, Ohio. Dr. Nielsen has been practicing medicine for over 36 years and is rated as an Advanced provider by MediFind in the treatment of Spinal Muscular Atrophy with Arthrogryposis. His top areas of expertise are Spinal Muscular Atrophy with Arthrogryposis, Spinal Muscular Atrophy Type 2, X-Linked Infantile Spinal Muscular Atrophy, Hypertension, and Endoscopy.

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