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

Spinal Muscular Atrophy Type 2 Overview

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
Dr. Basil Darras
Pediatric Neurology
Elite in Spinal Muscular Atrophy Type 2
Dr. Basil Darras
Pediatric Neurology

Department Of Neurology

300 Longwood Ave, 
Boston, MA 
617-919-5323
Languages Spoken:
English
See accepted insurances

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.

Elite in Spinal Muscular Atrophy Type 2
Francesco Muntoni
Elite in Spinal Muscular Atrophy Type 2
Francesco Muntoni
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 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
Dr. Crystal Proud
Pediatrics
Elite in Spinal Muscular Atrophy Type 2
Dr. Crystal Proud
Pediatrics

Office

850 Southampton Ave, 
Norfolk, VA 
757-668-9920
Experience:
17+ years
Languages Spoken:
English
See accepted insurances
Offers Telehealth

Crystal Proud is a Pediatrics provider in Norfolk, Virginia. Dr. Proud has been practicing medicine for over 17 years and is rated as an Elite provider by MediFind in the treatment of Spinal Muscular Atrophy Type 2. Her top areas of expertise are Spinal Muscular Atrophy Type 2, Spinal Muscular Atrophy (SMA), Duchenne Muscular Dystrophy, and Becker Muscular Dystrophy.

View All Doctors
What are the latest Spinal Muscular Atrophy Type 2 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: April 09, 2026

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)
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)
Enrollment Status: Recruiting
Publish Date: March 25, 2026
Intervention Type: Drug
Study Phase: Phase 2

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...

View All Clinical Trials
Who are the sources who wrote this article ?

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