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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
Pediatric Neurology | Pediatrics | Neurology
Elite in Spinal Muscular Atrophy Type 3
Pediatric Neurology | Pediatrics | Neurology
262 Danny Thomas Pl, 
Memphis, TN 
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Richard Finkel is a Pediatric Neurologist and a Pediatrics provider in Memphis, Tennessee. Dr. Finkel 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 3, and Spinal Muscular Atrophy Type 2. Dr. Finkel is currently accepting new patients.

Elite in Spinal Muscular Atrophy Type 3
Elite in Spinal Muscular Atrophy Type 3
Great Ormond Street Hospital Biomedical Research Centre, 
London, ENG, GB 

Francesco Muntoni practices in London, United Kingdom. Mr. Muntoni is rated as an Elite expert by MediFind in the treatment of Spinal Muscular Atrophy Type 3. His top areas of expertise are Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, Primary Lateral Sclerosis, Spinal Muscular Atrophy (SMA), and Gastrostomy.

 
 
 
 
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Elite in Spinal Muscular Atrophy Type 3
Pediatric Neurology | Medical Genetics | Pediatrics
Elite in Spinal Muscular Atrophy Type 3
Pediatric Neurology | Medical Genetics | Pediatrics

C H Neurology Foundation Inc

300 Longwood Ave, 
Boston, MA 
Languages Spoken:
English
Accepting New Patients

Basil Darras is a Pediatric Neurologist and a Medical Genetics provider in Boston, Massachusetts. Dr. Darras 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, Spinal Muscular Atrophy Type 1, and Gastrostomy. Dr. Darras is currently accepting new patients.

What are the latest Spinal Muscular Atrophy Type 3 Clinical Trials?
Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others

Summary: This is an observational longitudinal study to determine the natural history and genotype-phenotype correlations of disease causing mutations in Charcot Marie Tooth disease (CMT) type 1B (CMT1B), 2A (CMT2A), 4A (CMT4A), and 4C (CMT4C). The investigators will also be determine the capability of the newly developed CMT Pediatric Scale (CMT Peds scale) and the Minimal Dataset to measure impairment an...

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Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT

Summary: This project includes two projects. One is looking for new genes that cause Charcot Marie Tooth disease (CMT). The other is looking for genes that do not cause CMT, but may modify the symptoms a person has.