Difference between revisions of "Neuromuscular pathology"

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* Variability in severity and age of onset of disease (SMA type 1-4).
* Variability in severity and age of onset of disease (SMA type 1-4).
* Neurogenic muscle atrophy, weakness, loss of reflexes, tongue fasciculation and tremor.
* Neurogenic muscle atrophy, weakness, loss of reflexes, tongue fasciculation and tremor.
** Usu. groups of atrophic fibers.
** Few compensatorirc hypertrophic fibers.
===Diagnostic relevance===
===Diagnostic relevance===
* Antisense-oligonucleotide that increase full-length protein product derived from SMN2 (Nusinersen).
* Antisense-oligonucleotide that increase full-length protein product derived from SMN2 (Nusinersen).
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