Spinal Muscular Atrophy Type 3 Overview

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Learn About Spinal Muscular Atrophy Type 3

What is the definition of Spinal Muscular Atrophy Type 3?
Spinal muscular atrophy type 3 (SMA3) is a mild form of an inherited (genetic) neuromuscular disease characterized by decreased muscle tone and weakness (atrophy). Spinal muscular atrophy type 3 is caused by a degeneration of the lower motor neurons in the brain stem and spinal cord that control muscle movement. Spinal muscular atrophy type 3 mainly affects infants and children.
What are the symptoms of Spinal Muscular Atrophy Type 3?
Symptoms of spinal muscular atrophy type 3 usually appear after the first 18 months of life but can also have a later onset in early adulthood. Symptoms of spinal muscular atrophy include mild muscle weakness, difficulty walking, running, and climbing up and down stairs, and frequent respiratory infections.
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What are the current treatments for Spinal Muscular Atrophy Type 3?
There is currently no cure for spinal muscular atrophy type 3. Promising new treatments include disease-modifying therapies that stimulate the production of the spinal motor neuron protein (SMP), such as intrathecal (injected into spinal canal) Nusinersin (Spinraza) and oral risdaplam (Evrysdi). Other treatments for spinal muscular atrophy type 3 are mainly focused on alleviating symptoms and improving quality of life and may include physical therapy; occupational therapy; and the use of assistive devices, such as braces crutches, walkers and wheelchairs.
Who are the top Spinal Muscular Atrophy Type 3 Local Doctors?
Elite in Spinal Muscular Atrophy Type 3
Dr. Basil T. Darras
Pediatric Neurology | Pediatrics | Medical Genetics
Elite in Spinal Muscular Atrophy Type 3
Dr. Basil T. Darras
Pediatric Neurology | Pediatrics | Medical Genetics

C H Neurology Foundation Inc

300 Longwood Ave, 
Boston, MA 
 (2.0 mi)
617-355-6000
Languages Spoken:
English
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Accepting New Patients
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Basil Darras is a Pediatric Neurologist and a Pediatrics provider in Boston, Massachusetts. Dr. Darras and is rated as an Elite provider by MediFind in the treatment of Spinal Muscular Atrophy Type 3. His top areas of expertise are Spinal Muscular Atrophy (SMA), Primary Lateral Sclerosis, Spinal Muscular Atrophy Type 2, and Spinal Muscular Atrophy Type 3. Dr. Darras is currently accepting new patients.

Distinguished in Spinal Muscular Atrophy Type 3
Dr. James D. Berry
Neurology
Distinguished in Spinal Muscular Atrophy Type 3
Dr. James D. Berry
Neurology

Massachusetts General Physicians Organization Inc

55 Fruit St, 
Boston, MA 
 (1.9 mi)
617-724-0287
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

James Berry is a Neurologist in Boston, Massachusetts. Dr. Berry and is rated as a Distinguished provider by MediFind in the treatment of Spinal Muscular Atrophy Type 3. His top areas of expertise are Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Spinal Muscular Atrophy (SMA), Spinal and Bulbar Muscular Atrophy, and Spinal Muscular Atrophy Type 3. Dr. Berry is currently accepting new patients.

 
 
 
 
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Distinguished in Spinal Muscular Atrophy Type 3
Dr. William S. David
Neurology
Distinguished in Spinal Muscular Atrophy Type 3
Dr. William S. David
Neurology

Massachusetts General Physicians Organization Inc

55 Fruit St, 
Boston, MA 
 (1.9 mi)
617-724-0287
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

William David is a Neurologist in Boston, Massachusetts. Dr. David and is rated as a Distinguished provider by MediFind in the treatment of Spinal Muscular Atrophy Type 3. His top areas of expertise are Hereditary Sensory and Autonomic Neuropathy Type 2, Hereditary Sensory Neuropathy Type 1 (HSN1), Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), and Spinal Muscular Atrophy Type 3. Dr. David is currently accepting new patients.

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What are the latest Spinal Muscular Atrophy Type 3 Clinical Trials?
Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders
Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders
Enrollment Status: Recruiting
Publish Date: February 21, 2025

Summary: The purpose of this research is (1) to identify disease specific walking-related digital biomarkers of disease severity, and (2) monitor longitudinal changes in natural environments, for extended periods of time, in DMD and SMA.

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Evaluation of the Reproducibility of a Fatigability Test Fitted to Patients With Spinal Muscular Atrophy
Evaluation of the Reproducibility of a Fatigability Test Fitted to Patients With Spinal Muscular Atrophy
Enrollment Status: Recruiting
Publish Date: December 19, 2024
Intervention Type: Other
Study Phase: Not Applicable

Summary: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by the degeneration of motor neurons in the anterior horn of the spinal cord, due to the absence of the SMN1 gene and the resulting lack of SMN protein. Some patients with particularly severe forms (types 0 or 1) die before the age of 2 in the absence of treatment, while others retain autonomous walking throughout...

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