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. Joseph T. Duong
Neurology
Experienced in Spinal Muscular Atrophy with Arthrogryposis
Dr. Joseph T. Duong
Neurology

Franciscan Medical Group

1608 S J St, Fl 5, 
Tacoma, WA 
 (22.6 mi)
253-274-7505
Languages Spoken:
English, Vietnamese
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Accepting New Patients
Offers Telehealth

Joseph Duong is a Neurologist in Tacoma, Washington. Dr. Duong and is rated as an Experienced provider by MediFind in the treatment of Spinal Muscular Atrophy with Arthrogryposis. His top areas of expertise are Peripheral Neuropathy, Distal Median Nerve Dysfunction, Spinal Muscular Atrophy Type 3, and Spinal and Bulbar Muscular Atrophy. Dr. Duong is currently accepting new patients.

Advanced in Spinal Muscular Atrophy with Arthrogryposis
Dr. Danial K. Hallam
Neuroradiology | Radiology | Radiation Oncology
Advanced in Spinal Muscular Atrophy with Arthrogryposis
Dr. Danial K. Hallam
Neuroradiology | Radiology | Radiation Oncology

The Association Of University Physicians

4245 Roosevelt Way Ne, 
Seattle, WA 
 (27.7 mi)
206-598-7954
Experience:
36+ years
Languages Spoken:
English, Fijian, Filipino, Hindi, Spanish
See accepted insurances
Accepting New Patients
Offers Telehealth

Danial Hallam is a Neuroradiologist and a Radiologist in Seattle, Washington. Dr. Hallam 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 Arteriovenous Malformation, Spinal Muscular Atrophy Type 2, Spinal Muscular Atrophy with Arthrogryposis, Endovascular Embolization, and Thrombectomy. Dr. Hallam is currently accepting new patients.

 
 
 
 
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Advanced in Spinal Muscular Atrophy with Arthrogryposis
Dr. Michael D. Weiss
Neurology
Advanced in Spinal Muscular Atrophy with Arthrogryposis
Dr. Michael D. Weiss
Neurology

The Association Of University Physicians

1701 Columbia Rd, 
Seattle, WA 
 (27.8 mi)
206-598-3100
Languages Spoken:
English, Filipino, Japanese, Spanish
See accepted insurances
Accepting New Patients
Offers Telehealth

Michael Weiss is a Neurologist in Seattle, Washington. Dr. Weiss and is rated as an Advanced provider by MediFind in the treatment of Spinal Muscular Atrophy with Arthrogryposis. His top areas of expertise are Primary Lateral Sclerosis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Myasthenia Gravis, Gallbladder Removal, and Endoscopy. Dr. Weiss is currently accepting new patients.

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What are the latest Spinal Muscular Atrophy with Arthrogryposis Clinical Trials?
Coordination of Rare Diseases at Sanford
Coordination of Rare Diseases at Sanford
Enrollment Status: Recruiting
Publish Date: January 19, 2024

Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...

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Myoelectric Devices for Restoration of Independent Arm Function in Children and Adults With Neurological Disease and Injury
Myoelectric Devices for Restoration of Independent Arm Function in Children and Adults With Neurological Disease and Injury
Enrollment Status: Recruiting
Publish Date: April 13, 2023
Intervention Type: Device
Study Phase: Not Applicable

Summary: The purpose of this study is to investigate if a person with weakness or paralysis in one or both arms, can use the NuroSleeve combined powered arm brace (orthosis) and muscle stimulation system to help restore movement in one arm sufficient to perform daily activities. This study could lead to the development of a product that could allow people with arm weakness or arm paralysis to use the NuroS...

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