Spinal muscular atrophy (SMA) is a genetic motor neuron disease typically of infancy and childhood.
It is progressive muscle weakness due to degeneration of lower motor neurons in the spinal cord and brain.
After the genetic diagnosis of spinomuscular atrophy-SMA disease, family members should also be genetically examined.
Proximal SMA, or type1 SMA, is a fatal autosomal recessive disorder caused by homozygous deletion of exons 7 and 8 in the SMN gene.
SMA is a genetic motor neuron disease of infancy and childhood, and its severe form is seen in infants
Spinal cord and brainstem motor neuron degeneration leads to progressive muscle weakness.
The main symptom of the disease is hypotonia (sluggishness), typically weakness, retention and loss of sensation in the proximal muscles.
Fasciculation in the tongue and fine tremor in the hand are helpful signs in the diagnosis of spinomuscular atrophy - SMA
