Spinal muscular atrophy outcome measures: Difference between revisions
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{{Spinal Muscular Atrophy}} | {{Spinal Muscular Atrophy}} | ||
'''Editors-in-Chief:''' [[C. Michael Gibson, M.S., M.D.]]; [[Priyamvada Singh]], [[MBBS]] | '''Editors-in-Chief:''' [[C. Michael Gibson, M.S., M.D.]]; [[Priyamvada Singh]], [[MBBS]] | ||
==Overview== | |||
There is currently no cure for [[spinal muscular atrophy]]. There has been great interest in identifying agents that can increase the amount of full- length SMN protein by upregulating expression of the SMN2 gene. Many clinical trials are ongoing to find the most reliable outcome measures. | There is currently no cure for [[spinal muscular atrophy]]. There has been great interest in identifying agents that can increase the amount of full- length SMN protein by upregulating expression of the SMN2 gene. Many clinical trials are ongoing to find the most reliable outcome measures. | ||
Several new outcome measures have shown encouraging results and helped in designing future clinical trials. Some of them currently used in clinical trials are as follows – | Several new outcome measures have shown encouraging results and helped in designing future clinical trials. Some of them currently used in clinical trials are as follows – | ||
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*'''Serologic biomarkers (SMN mRNA and protein levels)''' | *'''Serologic biomarkers (SMN mRNA and protein levels)''' | ||
==References== | ==References== | ||
[[Category:Motor neuron disease]] | [[Category:Motor neuron disease]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
Latest revision as of 14:40, 28 January 2012
Editors-in-Chief: C. Michael Gibson, M.S., M.D.; Priyamvada Singh, MBBS
Overview
There is currently no cure for spinal muscular atrophy. There has been great interest in identifying agents that can increase the amount of full- length SMN protein by upregulating expression of the SMN2 gene. Many clinical trials are ongoing to find the most reliable outcome measures.
Several new outcome measures have shown encouraging results and helped in designing future clinical trials. Some of them currently used in clinical trials are as follows –
- Quantitative muscle ultrasound
- The Six-Minute Walk Test (6MWT) – In case of ambulatory SMA patients.
- 10 minute walk/run test
- The Hammersmith Motor Scale
- The Hammersmith Functional Motor Scale Expanded (HFMSE)
- Knee flexor strength test
- The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)
- The Gross Motor Function Measurement
- Motor unit number estimation (MUNE)
- Compound motor action potential (CMAP) amplitude
- Serologic biomarkers (SMN mRNA and protein levels)
References
da:Spinal muskulær atrofi de:Spinale Muskelatrophie el:Νωτιαία μυϊκή ατροφία nl:Spinale Musculaire Atrofieën fi:Spinaaliset lihasatrofiat sv:Spinal muskelatrofi