Spinal Muscular Atrophy Type 2
Symptoms, Doctors, Treatments, Advances & More

Save information for later
Sign Up

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
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 practicing medicine in Boston, Massachusetts. Dr. Darras is rated as an Elite provider by MediFind in the treatment of Spinal Muscular Atrophy Type 2. He is also highly rated in 42 other conditions, according to our data. His clinical expertise encompasses Spinal Muscular Atrophy (SMA), Primary Lateral Sclerosis, Spinal Muscular Atrophy Type 2, Spinal Muscular Atrophy Type 1, and Gastrostomy.

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 practicing medicine in London, United Kingdom. Mr. Muntoni is rated as an Elite expert by MediFind in the treatment of Spinal Muscular Atrophy Type 2. He is also highly rated in 43 other conditions, according to our data. His clinical expertise encompasses Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, Primary Lateral Sclerosis, Spinal Muscular Atrophy (SMA), and Gastrostomy.

 
 
 
 
Learn about our expert tiers
Learn More
Elite in Spinal Muscular Atrophy Type 2
Elite in Spinal Muscular Atrophy Type 2

Office

850 Southampton Ave, 
Norfolk, VA 
Experience:
17+ years
Languages Spoken:
English
Offers Telehealth

Crystal Proud is a Pediatrics provider practicing medicine in Norfolk, Virginia. She has been practicing medicine for over 17 years. Dr. Proud is rated as an Elite provider by MediFind in the treatment of Spinal Muscular Atrophy Type 2. She is also highly rated in 14 other conditions, according to our data. Her clinical expertise encompasses Spinal Muscular Atrophy Type 2, Spinal Muscular Atrophy (SMA), Duchenne Muscular Dystrophy, and Becker Muscular Dystrophy.

What are the latest Spinal Muscular Atrophy Type 2 Clinical Trials?
Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders

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.

Match to trials
Find the right clinical trials for you in under a minute
Get started
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...

Who are the sources who wrote this article ?

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