Spinal Muscular Atrophy Type 2
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Learn About Spinal Muscular Atrophy Type 2

What is the definition of Spinal Muscular Atrophy Type 2?
Spinal muscular atrophy type 2 (SMA2) is a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles (motor neurons). Babies with SMA2 can sit without support, however, they cannot stand or walk independently. Feeding and breathing problems may also develop. SMA2 is caused by changes (pathogenic variants also called genetic changes) in the SMN1 gene and is inherited in an autosomal recessive manner. Diagnosis of SMA2 is suspected by symptoms and confirmed by genetic testing.
What are the alternative names for Spinal Muscular Atrophy Type 2?
  • Spinal muscular atrophy type 2
  • Dubowitz disease
  • Muscular atrophy, spinal, infantile chronic form
  • Muscular atrophy, spinal, intermediate type
  • SMA II
  • SMA2
  • Spinal muscular atrophy type II
Who are the top Spinal Muscular Atrophy Type 2 Local Doctors?
Elite in Spinal Muscular Atrophy Type 2
Elite in Spinal Muscular Atrophy Type 2

St. Jude Children's Research Hospital

262 Danny Thomas Pl, 
Memphis, TN 
Languages Spoken:
English
Offers Telehealth

Richard Finkel is a Pediatrics provider in Memphis, Tennessee. Dr. Finkel is rated as an Elite provider by MediFind in the treatment of Spinal Muscular Atrophy Type 2. His top areas of expertise are Spinal Muscular Atrophy (SMA), Primary Lateral Sclerosis, Spinal Muscular Atrophy Type 3, and Spinal Muscular Atrophy Type 2.

Elite in Spinal Muscular Atrophy Type 2
Pediatric Neurology
Elite in Spinal Muscular Atrophy Type 2
Pediatric Neurology

Department Of Neurology

300 Longwood Ave, 
Boston, MA 
Languages Spoken:
English

Basil Darras is a Pediatric Neurologist in Boston, Massachusetts. Dr. Darras is rated as an Elite provider by MediFind in the treatment of Spinal Muscular Atrophy Type 2. 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.

 
 
 
 
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Elite in Spinal Muscular Atrophy Type 2
Elite in Spinal Muscular Atrophy Type 2
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 2. His top areas of expertise are Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Primary Lateral Sclerosis, Spinal Muscular Atrophy (SMA), and Gastrostomy.

What are the latest Spinal Muscular Atrophy Type 2 Clinical Trials?
Identification of Gait-related Digital Biomarkers of Bone Health in Spinal Muscular Atrophy

Summary: The objective of this study is to understand how spatiotemporal and kinetic gait parameters are associated with bone health in pwSMA who are receiving DMT. We hypothesize that gait parameters are associated with BMD and can determine fracture risk in pwSMA. This is an observational study that involves one in-clinic visit (approximately 3 hours) with remote follow-up visits (approximately 15 minute...

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A Phase 2, Double-Blind Study to Evaluate the Pharmacokinetics, Pharmacodynamics, Efficacy, and Safety of Apitegromab in Subjects <2 Years Old With Spinal Muscular Atrophy (SMA)

Summary: This double-blind, Phase 2, multiple-dose study will be conducted to evaluate the PK/PD, efficacy, safety, and tolerability of apitegromab in subjects \<2 years old with 5q autosomal recessive SMA who have delayed motor milestones for their age attributed to SMA at the discretion of the Investigator or a Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) score...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center