Identification of Novel Targets to Treat Spinal Muscular Atrophy

Abstract

Spinal muscular atrophy (SMA) is a debilitating neuromuscular disease that is one of the leading genetic causes of infant mortality. SMA is caused by insufficient levels of survival motor neuron (SMN) protein and is characterized by the loss of lower motor neurons in the anterior horn of the spinal cord and denervation-dependent muscle atrophy. Patients present with severe muscle weakness and fail to achieve normal motor milestones. Recently approved treatments for SMA, nusinersen and gene therapy, prolong lifespan, but only a small subset of patients have improvements in their motor function.

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Document Details

Document Type
Technical Report
Publication Date
Mar 17, 2020
Accession Number
AD1182796

Entities

People

  • Nikki M. Mccormack

Organizations

  • Uniformed Services University of the Health Sciences

Tags

Communities of Interest

  • Biomedical

DTIC Thesaurus Topics

  • Biological Sciences
  • Body Weight
  • Brain
  • Cell Membrane
  • Cell Physiological Processes
  • Cells
  • Chemistry
  • Enzyme Inhibitors
  • Gene Expression
  • Gene Therapy
  • Genetics
  • Molecular Dynamics
  • Muscle Cells
  • Myoblasts
  • Neuromuscular Diseases
  • Neurons
  • Peripheral Nervous System
  • Proteins
  • Rna Stability
  • Skeletal Muscle
  • Small Molecules
  • Spinal Cord
  • Stem Cells
  • Synapses
  • Transcription Factors

Fields of Study

  • Medicine

Readers

  • Marine Propulsion Engineering and Naval Architecture
  • Neuroscience
  • Trauma or Military Medicine

Technology Areas

  • Biotechnology