SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

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Spinal muscular atrophies (SMA) are motor neuron disorders classified as 5q-SMA and non-5q-SMA. The first is caused by the absence or alteration of the SMN1 gene and is considered one of the main hereditary causes of infant morbidity and mortality. Non-5q SMA consist of subtypes of SMA unrelated to SMN1 mutations. Non-5q SMA shows a great genetic heterogeneity making confirmation of diagnosis very difficult and which is partially solved with the recent appearance of NGS techniques. Our aim was to describe clinical and molecular features of a series of patients with a non-5q diagnosis.

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