Spinal Muscular Atrophy

Spinal Muscular Atrophy (SMA) is a genetic disorder that affects the motor neurons in the spinal cord, leading to muscle weakness and wasting. It is a progressive disorder that can range from mild to severe, and is caused by a mutation in the SMN1 gene, which provides instructions for making a protein essential for the survival of motor neurons.

There are four types of SMA, classified by age of onset and severity:

  1. Type 1: Onset in the first 6 months of life, most severe form, and typically leads to death by 2 years of age
  2. Type 2: Onset between 7-18 months, moderate severity
  3. Type 3: Onset after 18 months, mildest form with individuals having the ability to walk
  4. Type 4: Onset in adulthood, least severe form with mild muscle weakness

Common symptoms of SMA include:

  1. Decreased muscle tone and strength
  2. Difficulty with movements such as crawling, walking, head control, and breathing
  3. Muscle wasting and atrophy
  4. Breathing difficulties
  5. Scoliosis (abnormal curvature of the spine)

There is currently no cure for SMA, and treatment is aimed at managing symptoms and improving quality of life. This may include physical therapy, speech therapy, respiratory support, and assistive devices.

Recently, a new drug called nusinersen has been approved by the FDA to treat SMA, which has shown to improve muscle function and survival in individuals with SMA. Research into new treatments and therapies continues, and there is hope for a brighter future for individuals and families affected by SMA.

Onasemnogene abeparvovec, sold under the brand name Zolgensma, is a gene therapy medication used to treat spinal muscular atrophy (SMA). It is used as a one-time infusion into a vein.

In conclusion, SMA is a debilitating disorder that affects many families, but with advances in medical research and care, individuals with SMA can lead fulfilling lives with the support of their families and healthcare providers.

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