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Difference between revisions of "Neuromuscular pathology"
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→Spinal muscular atrophy: histo
Jensflorian (talk | contribs) (→Granulomatous myositis: +sma) |
Jensflorian (talk | contribs) (→Spinal muscular atrophy: histo) |
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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). | ||