Spinal Muscular Atrophy Type 2 Overview

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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
Dr. Richard S. Finkel
Pediatric Neurology | Pediatrics | Neurology
Elite in Spinal Muscular Atrophy Type 2
Dr. Richard S. Finkel
Pediatric Neurology | Pediatrics | Neurology
262 Danny Thomas Pl, 
Memphis, TN 
888-226-4343
Languages Spoken:
English
See accepted insurances
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 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. Dr. Finkel is currently accepting new patients.

Elite in Spinal Muscular Atrophy Type 2
Dr. Basil T. Darras
Pediatric Neurology | Medical Genetics | Pediatrics
Elite in Spinal Muscular Atrophy Type 2
Dr. Basil T. Darras
Pediatric Neurology | Medical Genetics | Pediatrics

C H Neurology Foundation Inc

300 Longwood Ave, 
Boston, MA 
617-355-6000
Languages Spoken:
English
See accepted insurances
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 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. Dr. Darras is currently accepting new patients.

 
 
 
 
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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.

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What are the latest Spinal Muscular Atrophy Type 2 Clinical Trials?
Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others
Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others
Enrollment Status: Recruiting
Publish Date: October 07, 2025

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
Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT
Enrollment Status: Recruiting
Publish Date: October 07, 2025

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.

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Who are the sources who wrote this article ?

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