What Spinal Muscular Atrophy?

Sarah Jenkins
Sarah Jenkins
• • 7 min read

Spinal Muscular Atrophy (Sma) Is a Group of Hereditary Diseases Hereditary Diseases Definition. Diseases That Are Caused by Genetic Mutations Present During...

What Spinal Muscular Atrophy?

Spinal muscular atrophy (SMA) is a group of hereditary diseases

hereditary diseases
Definition. Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [
that progressively destroys motor neurons—nerve cells in the brain stem and spinal cord that control essential skeletal muscle activity such as speaking, walking, breathing, and swallowing, leading to muscle weakness and atrophy.

What causes spinal muscular atrophy?

Spinal muscle atrophy is a genetic disorder. Most forms of SMA are caused by mutations of the survival motor neuron 1 gene (SMN1) on the fifth chromosome, resulting in insufficient expression levels of the SMN protein.

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What are the symptoms of spinal muscular atrophy?

What are the symptoms of spinal muscular atrophy?
  • muscle weakness and decreased muscle tone.
  • limited mobility.
  • breathing problems.
  • problems eating and swallowing.
  • delayed gross motor skills.
  • spontaneous tongue movements.
  • scoliosis (curvature of the spine)
Sarah Jenkins

Sarah Jenkins

Senior Technology Editor & AI Specialist
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Sarah Jenkins is a veteran tech journalist with over 12 years of experience covering artificial intelligence, mobile innovations, and digital ethics. Her insights have appeared in leading technology publications worldwide.