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Difference between revisions of "Neuromuscular pathology"
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→Granulomatous myositis: +sma
Jensflorian (talk | contribs) (→Granulomatous myositis: +sma) |
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File:Granulomatous myositis.jpg | Granulomatous myositis ([[H&E]]) | File:Granulomatous myositis.jpg | Granulomatous myositis ([[H&E]]) | ||
</gallery> | </gallery> | ||
==Spinal muscular atrophy== | |||
* Autosomal recessive disease by SMN1 gene deletion on chromosome 5q. | |||
* Centromeric gene copy (SMN2) whose product can mitigate disease severity. | |||
* Variability in severity and age of onset of disease (SMA type 1-4). | |||
* Neurogenic muscle atrophy, weakness, loss of reflexes, tongue fasciculation and tremor. | |||
===Diagnostic relevance=== | |||
* Antisense-oligonucleotide that increase full-length protein product derived from SMN2 (Nusinersen). | |||
* Gene transfer with scAAV9-SMN (Zolgensma). | |||
==Metabolic myopathy== | ==Metabolic myopathy== | ||