Spinal
Muscular
Atrophy
WHAT IS SMA?
Spinal Muscular Atrophy- is a genetic neuromuscular disorder that affects the motor neurons responsible for controlling voluntary muscle movement. It is primarily caused by a mutation in the Survival Motor Neuron 1 (SMN1) gene, which leads to a deficiency in the survival motor neuron protein (SMN protein).
TYPE 1
This is the most severe form and typically appears within the first few months of life. Infants with Type 1 SMA have very weak muscles, difficulty breathing, and may have feeding and swallowing difficulties.
TYPE 3
This form appears in early childhood, usually between 2 and 17 years of age. Individuals with Type 3 SMA may be able to walk independently, but they may experience muscle weakness, motor function decline, and develop mobility issues over time.
TYPE 2
This form of SMA typically manifests between 6 and 18 months of age. Children with Type 2 SMA can sit independently but may have difficulties with walking and mobility. They may also experience respiratory complications.
TYPE 4
This is the mildest form and often begins in adulthood. Symptoms can include muscle weakness, tremors, and mild mobility difficulties.
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