Spinal Muscular Atrophy Type 1
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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 practicing medicine in London, United Kingdom. Mr. Baranello is rated as an Elite expert by MediFind in the treatment of Spinal Muscular Atrophy Type 1. He is also highly rated in 14 other conditions, according to our data. His clinical expertise encompasses 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 practicing medicine in Milan, Italy. Mr. Masson is rated as an Elite expert by MediFind in the treatment of Spinal Muscular Atrophy Type 1. He is also highly rated in 8 other conditions, according to our data. His clinical expertise encompasses 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
Eugenio M. Mercuri
Elite in Spinal Muscular Atrophy Type 1
Eugenio M. Mercuri
Rome, IT 

Eugenio Mercuri practices practicing medicine in Rome, Italy. Mr. Mercuri is rated as an Elite expert by MediFind in the treatment of Spinal Muscular Atrophy Type 1. He is also highly rated in 23 other conditions, according to our data. His clinical expertise encompasses Primary Lateral Sclerosis, Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Spinal Muscular Atrophy (SMA).

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What are the latest Spinal Muscular Atrophy Type 1 Clinical Trials?
A Phase 1-2, Open-Label, Multicenter Study to Assess the Safety, Tolerability and Efficacy of a Single Dose of GB221 Delivered Into the Cisterna Magna of Pediatric Participants From 2 Weeks to Younger Than 12 Months of Age With Spinal Muscular Atrophy Type 1
A Phase 1-2, Open-Label, Multicenter Study to Assess the Safety, Tolerability and Efficacy of a Single Dose of GB221 Delivered Into the Cisterna Magna of Pediatric Participants From 2 Weeks to Younger Than 12 Months of Age With Spinal Muscular Atrophy Type 1
Enrollment Status: Recruiting
Publish Date: March 02, 2026
Intervention Type: Biological
Study Phase: Phase 1/Phase 2

Summary: GB221 is a gene therapy that delivers a working SMN1 gene to the motor neurons of people with spinal muscular atrophy (SMA) Type 1. This study will evaluate the safety, tolerability and efficacy of GB221 in two groups: 1. participants aged from 2 weeks to younger than 12 months presenting with symptoms of SMA Type 1 who have never received a treatment OR are receiving the drug risdiplam 2. partici...

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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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Who are the sources who wrote this article ?

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