Consensus Statement for Standard of Care in Spinal Muscular Atrophy

@article{Wang2007ConsensusSF,
  title={Consensus Statement for Standard of Care in Spinal Muscular Atrophy},
  author={Ching H. Wang and Richard S. Finkel and Enrico Silvio Bertini and Mary K. Schroth and Anita Simonds and Brenda L Y Wong and Annie Aloysius and Leslie Morrison and Marion Main and Thomas O. Crawford and Anthony Trela},
  journal={Journal of Child Neurology},
  year={2007},
  volume={22},
  pages={1027 - 1049}
}
Spinal muscular atrophy is a neurodegenerative disease that requires multidisciplinary medical care. Recent progress in the understanding of molecular pathogenesis of spinal muscular atrophy and advances in medical technology have not been matched by similar developments in the care for spinal muscular atrophy patients. Variations in medical practice coupled with differences in family resources and values have resulted in variable clinical outcomes that are likely to compromise valid measure of… 

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References

SHOWING 1-10 OF 156 REFERENCES
Outcome measures for pediatric spinal muscular atrophy.
TLDR
A tool for motor function may be more useful in clinical trials of childhood SMA than one for quantitative muscle strength.
Spinal muscular atrophy: experience in diagnosis and rehabilitation management of 60 patients.
TLDR
Although the life span with Type I SMA (Werdnig-Hoffmann disease) may be short, children with the disease can be made more comfortable with appropriate medical care and parental support.
Reliability of 4 outcome measures in pediatric spinal muscular atrophy.
TLDR
The Gross Motor Function Measure, pulmonary function tests, quantitative muscle testing, and quality of life are reliable outcome measures for clinical trials in pediatric spinal muscular atrophy.
Respiratory support in spinal muscular atrophy type I: a survey of physician practices and attitudes.
TLDR
A wide variation in physician practice is found regarding the mechanical ventilation of patients with SMA type I, and it is suggested that physician training and attitudes affect recommendations regarding mechanical ventilation and ultimately family decision making.
Spinal Muscular Atrophy: Survival Pattern and Functional Status
TLDR
The age of disease onset is defined as the age in which the first abnormalities were obvious from the medical records or from the descriptions of the parents about the first signs of weakness, eg, age of achievement of certain motor milestones or loss of functions.
Challenges and opportunities in clinical trials for spinal muscular atrophy
TLDR
The authors sought to address the challenges and opportunities for testing new therapies for SMA and several candidates including histone deacetylase (HDAC) inhibitors are under consideration for further evaluation.
Process measures and patient/parent evaluation of surgical management of spinal deformities in patients with progressive flaccid neuromuscular scoliosis (Duchenne's muscular dystrophy and spinal muscular atrophy).
TLDR
It is indicated that spinal fusion with segmental spinal instrumentation benefits most patients with Duchenne's muscular dystrophy or spinal muscular atrophy with spinal deformities in terms of all categories assessed, even though these diseases have a progressively deteriorating course.
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