The devastating effects of spinal muscular atrophy
Infants with SMA: -SMA is usually diagnosed in infancy or early childhood, and if left untreated is the most common .
Spinal muscular atrophy: -Loss of these neurons in the spinal cord prevents signaling between the brain and skeletal muscles.
What causes spinal muscular atrophy: -The disease is caused by a mutation in the survival motor neuron 1 gene.
How do you get spinal muscular atrophy: -This rare neuromuscular disorder is inherited. In most cases, a child can only be born with SMA.
First case discovered: -The first case of what is now called spinal muscular atrophy was described in 1891.
Diagnosis: -Timing of diagnosis is crucial for spinal muscular atrophy.
What is spinal muscular atrophy: -Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disease.
SMA symptoms: -As they approach two years old, affected children will demonstrate further muscle.
gene: -SMAN1 is responsible for producing survival motor neuron (SMN) protein.
Types of SMA: -There are four types of SMA: Type 1 is the most common and severe form of SMA.