06/10/2026
Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy is a genetic neuromuscular disorder in which the motor neurons—nerve cells in the spinal cord that control voluntary muscles—gradually degenerate.
Why does it happen?🛎
Most cases are caused by changes in the SMN1 gene, leading to insufficient survival motor neuron (SMN) protein. SMA is usually inherited in an autosomal recessive pattern.
Main features⌛️
Progressive muscle weakness and muscle wasting
Low muscle tone (hypotonia), particularly in infants
Delayed or lost motor milestones
Difficulty sitting, standing, walking, or climbing stairs
Weakness is often more prominent in the proximal muscles—shoulders, hips and trunk
Reduced or absent deep tendon reflexes
Tremors or fine twitching of the tongue/fingers may occur
In severe forms, weakness of the breathing and swallowing muscles
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Depending on the individual, treatment may include gene therapy or medications that increase SMN protein production, along with respiratory, nutritional, physiotherapy and occupational therapy support.
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From an OT perspective, goals include maximizing independence in dressing, feeding, school activities and mobility; conserving energy; optimizing positioning and seating; adapting equipment; and supporting participation while avoiding excessive muscle fatigue.