Spinal Muscular Atrophy Type 1 Overview

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Learn About Spinal Muscular Atrophy Type 1

What is the definition of Spinal Muscular Atrophy Type 1?
Spinal muscular atrophy 1 (SMA1), also known as Werdnig Hoffmann disease, is a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles (motor neurons). Without treatment, symptoms of SMA1 become apparent before 6 months of age and include worsening muscle weakness and poor muscle tone (hypotonia) due to loss of the lower motor neurons in the spinal cord and brain stem. Feeding and breathing problems may also present. SMA1 is caused by changes (pathogenic variants also called genetic changes) in the SMN1 gene and is typically inherited in an autosomal recessive manner. Diagnosis of SMA1 is suspected by symptoms and confirmed by genetic testing. SMA has been added to the list of recommended newborn screening tests in the United States, so that it can be detected prior to symptoms developing.
What are the alternative names for Spinal Muscular Atrophy Type 1?
  • Spinal muscular atrophy 1
  • Muscular atrophy, infantile
  • Proximal spinal muscular atrophy type 1
  • Proximal spinal muscular atrophy, type 1
  • SMA type 1
  • SMA type I
  • SMA, infantile acute form
  • SMA-I
  • SMA1
  • Werdnig Hoffmann disease
  • Werdnig-Hoffmann disease
Who are the top Spinal Muscular Atrophy Type 1 Local Doctors?
Elite in Spinal Muscular Atrophy Type 1
Giovanni Baranello
Elite in Spinal Muscular Atrophy Type 1
Giovanni Baranello
Great Ormond Street Hospital Biomedical Research Centre, 
London, ENG, GB 

Giovanni Baranello practices in London, United Kingdom. Mr. Baranello is rated as an Elite expert by MediFind in the treatment of Spinal Muscular Atrophy Type 1. His top areas of expertise are Spinal Muscular Atrophy Type 1, Spinal Muscular Atrophy (SMA), Primary Lateral Sclerosis, and Muscle Atrophy.

Elite in Spinal Muscular Atrophy Type 1
Riccardo Masson
Elite in Spinal Muscular Atrophy Type 1
Riccardo Masson
Milan, IT 

Riccardo Masson practices in Milan, Italy. Mr. Masson is rated as an Elite expert by MediFind in the treatment of Spinal Muscular Atrophy Type 1. His top areas of expertise are Spinal Muscular Atrophy Type 1, Spinal Muscular Atrophy (SMA), Primary Lateral Sclerosis, and Muscle Atrophy.

 
 
 
 
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Elite in Spinal Muscular Atrophy Type 1
Dr. Basil T. Darras
Pediatric Neurology | Medical Genetics | Pediatrics
Elite in Spinal Muscular Atrophy Type 1
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
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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 1. 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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What are the latest Spinal Muscular Atrophy Type 1 Clinical Trials?
A Multi-center, Open Label, Single-arm, Dose Ascending Clinical Trial for Evaluation of Safety and Efficacy of Gene Therapy Drug GC101 in the Treatment of Spinal Muscular Atrophy (SMA) Type 1 Patients
A Multi-center, Open Label, Single-arm, Dose Ascending Clinical Trial for Evaluation of Safety and Efficacy of Gene Therapy Drug GC101 in the Treatment of Spinal Muscular Atrophy (SMA) Type 1 Patients
Enrollment Status: Recruiting
Publish Date: July 03, 2025
Intervention Type: Genetic
Study Phase: Phase 1/Phase 2

Summary: The study will evaluate safety and efficacy of intrathecal delivery of GC101 gene therapy drug as a treatment of spinal muscular atrophy Type 1 (SMA 1) patients.

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A Multicenter, Open, Dose-escalation Clinical Study Evaluating the Safety, Initial Efficacy, and Immunogenicity of SKG0201 Injection in Patients With Spinal Muscular Atrophy Type 1
A Multicenter, Open, Dose-escalation Clinical Study Evaluating the Safety, Initial Efficacy, and Immunogenicity of SKG0201 Injection in Patients With Spinal Muscular Atrophy Type 1
Enrollment Status: Recruiting
Publish Date: May 01, 2024
Intervention Type: Genetic
Study Phase: Not Applicable

Summary: This is a clinical study to evaluate the safety and efficacy of gene therapy drug SKG0201 Injection in patients with spinal muscular atrophy Type 1 (SMA 1).

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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