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Published online by Cambridge University Press: 21 November 2024
Spinal muscular atrophy (SMA) is a type of motor neuron disease that is autosomal recessive and is passed by mutation of the SMN1 (survival motor neuron 1) gene located at chromosome 5q11. Though SMA is divided into four subtypes (SMA 1–4) based on the severity and age of onset of symptoms, symptoms generally consist of subacute weakness and lower motor neuron signs in the absence of sensory or cognitive impairment. Postural tremor is very common, and the vast majority of these individuals have tongue fasciculations.
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