Five Facts about spinal muscular atrophy

pharmafile | January 28, 2026 | Feature | Medical Communications |  Five Facts, Neurology, early diagnosis, five types, gene therapy, muscle weakness, spinal muscular atrophy 

1

Spinal muscular atrophy (SMA) is a genetic disease involving the loss of motor neurons in the spinal cord.1 Its main symptom is muscle weakness, and it can lead to difficulties sitting up, walking, breathing and swallowing.2

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The most common type of SMA can be divided into five main types, ranging from a very severe form that develops before birth (type 0) to a milder form that appears in adulthood and does not affect life expectancy (type 4).3

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Early diagnosis is crucial, as once symptoms of SMA appear, irreversible neuron damage has already happened. In the UK, 60% of babies born with SMA are diagnosed with a severe form of the condition.4

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There is no current cure for SMA.5 Some medications can help by increasing the production of survival motor neuron (SMN) protein. People with SMA can also benefit from physical therapy and devices such as braces and wheelchairs.

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Researchers from the National Institute of Neurological Disorders and Stroke (NINDS) are currently studying how gene editing could be used to correct gene mutations in SMA, leading to potential advances in treatment.6

References:

  1. https://www.mda.org/disease/spinal-muscular-atrophy
  2. https://www.nhs.uk/conditions/spinal-muscular-atrophy-sma/
  3. https://www.musculardystrophyuk.org/conditions/a-z/spinal-muscular-atrophy-sma/
  4. https://smauk.org.uk/uncategorized/newborn-screening-for-sma-a-short-overview/
  5. https://www.nhs.uk/conditions/spinal-muscular-atrophy-sma/
  6.  https://www.ninds.nih.gov/health-information/disorders/spinal-muscular-atrophy

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