An Overview on Spinal Muscular Atrophy

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Understanding Spinal Muscular Atrophy

• Spinal Muscular Atrophy (SMA) is a progressive,
  neuromuscular, genetic disorder.
• It affects the motor neurons in the spinal cord
  and impairs movement.
• SMA is a genetic disorder that involves a problem
  with the SMN1 gene
• The only way an individual can contract SMA is if
  they inherit this faulty gene from both parents

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Types of Spinal Muscular Atrophy (SMA)

• Type 0 rare, symptoms may manifest before birth
  or soon after
• Type 1 most common, diagnosed within first 6
  months of birth
• Type 2 diagnosed between 6 months and 18 months
• Type 3 diagnosed after 18 months into early
  adulthood
• Type 4 very rare, symptoms manifest in early
  adulthood

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Spinal Muscular Atrophy Symptoms

• ? Respiratory issues
• ? Weak/floppy limbs
• ? Tremors or twitching/shaking muscles
• ? Movement troubles (cannot crawl, walk, sit up
  without support)
• ? Scoliosis
• ? Chewing and swallowing troubles
• ? Bone fractures

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Spinal Muscular Atrophy Symptoms

• The symptoms of Type 1 SMA manifest in the first
  six months of life.These symptoms areFloppy
  and weak limbs (hypotonia)Respiratory
  issuesVery poor motor skillsSwallowing
  issuesInability to raise head
• The symptoms of Type 2 SMA manifest in babies
  when theyre around 7 to 8 months old.They
  areHypotoniaTendency to develop scoliosis
  (curved spine) laterMay be able to sit without
  support, but cannot stand/walk without
  supportMay have tremors in fingers and
  handsRespiratory issues - always at the risk of
  chest infection due to weak pulmonary muscles

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Spinal Muscular Atrophy Symptoms

• Symptoms of Type 3 SMA manifest as late as after
  18 months of age.
• There have also been cases of the symptoms
  appearing in later childhood or early
  adulthood.The symptoms include
• Difficulty in walking or getting up after being
  in a sitting position
• Proprioception and balance problems
• Slight tremors in fingers
• Inability to climb steps or run
• Inability to walk for long periods of time

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Spinal Muscular Atrophy Symptoms

• Type 4 (Adult-onset SMA)
• Although Type 4 SMA is progressive, it does not
  lead to respiratory problems and dysphagia in all
  cases.These symptoms begin in early adulthood.
  They are
• Hypotonia
• Difficulty in walking
• Tremors
• Twitching muscles

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Treatment of Spinal Muscular Atrophy Symptoms

• Although SMA is a progressive condition, with the
  right support and treatment, its symptoms can be
  managed.
• Early diagnosis and treatment can help improve
  the quality of life of the patient.Treatment for
  SMA includes
• ? Medication to target the faulty SMN1 gene
• ? Physiotherapy to help with movement and
  breathing
• ? Braces or corrective surgery to treat joint
  and spine problems
• ? Feeding tubes
• ? Stem cell therapy
• ? Speech therapy
• ? Occupational therapy