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.
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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
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What are the latest Spinal Muscular Atrophy Type 1 Clinical Trials?
Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)
Summary: Building on previous work of the Myotonic Dystrophy Clinical Research Network (DMCRN), the present study seeks to overcome insufficient data on natural history; lack of reliable biomarkers; and incomplete characterization and limited biological understanding of the phenotypic heterogeneity of Myotonic Dystrophy 1 by examining strategies to improve the reliability by making further refinements in o...
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Investigating NMJ Defects in SMA Following Central and Peripheral SMN Restoration
Summary: This is an observational study to investigate the improvement of NMJ defects in adult patients with SMA following treatment with Risdiplam. Eligible patients will receive treatment with daily oral Risdiplam after receiving approval through their commercial insurance or drug assistance program. All subjects will be evaluated at the baseline visit to determine eligibility. Eligible subjects will be ...
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Spinal Muscular Atrophy Type 1?
Clinical follow-up analysis of nusinersen in the disease-modifying treatment of pediatric spinal muscular atrophy.
Summary: Clinical follow-up analysis of nusinersen in the disease-modifying treatment of pediatric spinal muscular atrophy.
Safety, tolerability, and efficacy of a widely available nusinersen program for Polish children with Spinal Muscular Atrophy.
Summary: Safety, tolerability, and efficacy of a widely available nusinersen program for Polish children with Spinal Muscular Atrophy.
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Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial.
Summary: Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial.