SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

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Proximal spinal muscle atrophy (SMA) is an autosomal recessive disorder caused by deletions or mutations in the SMN1 gene, being characterized by lower motor neuron degeneration in the brainstem and spinal cord with subsequent weakness and muscle atrophy. We aimed to raise awareness of phenotypic and genotypic features of alive SMA patients in Portugal. A multicentre, retrospective study was performed in Portuguese tertiary centres from January 2015 to December 2017. SMA patients were categorized into four phenotypic groups according to the age of onset and highest motor milestones.

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