Consensus Statement on Standard of Care for Congenital Myopathies

@article{Wang2012ConsensusSO,
  title={Consensus Statement on Standard of Care for Congenital Myopathies},
  author={Ching H. Wang and James J. Dowling and Kathryn N. North and Mary K. Schroth and Thomas Sejersen and Frederic Shapiro and Jonathan Bellini and Hali E. Weiss and Marc Guillet and Kimberly Amburgey and Susan D. Apkon and Enrico Silvio Bertini and Carsten G. Bonnemann and Nigel F. Clarke and Anne Connolly and Brigitte Estournet‐Mathiaud and Dominic Fitzgerald and Julaine M. Florence and Richard Gee and Juliana Gurgel-Giannetti and Allan M. Glanzman and Brittany Hofmeister and Heinz Jungbluth and Anastassios C. Koumbourlis and Nigel G. Laing and Marion Main and Leslie Morrison and Craig F Munns and Kristy J. Rose and Pamela M. Schuler and Caroline A. Sewry and Kari Storhaug and Mariz Vainzof and Nanci Yuan},
  journal={Journal of Child Neurology},
  year={2012},
  volume={27},
  pages={363 - 382}
}
Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers, and the levels of patient care are extremely variable. This consensus statement aims to provide care guidelines for congenital myopathies. The International Standard of Care Committee for Congenital Myopathies worked through frequent e-mail… 

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References

SHOWING 1-10 OF 112 REFERENCES

Consensus Statement on Standard of Care for Congenital Muscular Dystrophies

The International Standard of Care Committee for Congenital Muscular Dystrophy was established to identify current care issues, review literature for evidence-based practice, and achieve consensus on care recommendations in 7 areas: diagnosis, neurology, pulmonology, orthopedics/rehabilitation, gastroenterology/ nutrition/speech/oral care, cardiology, and palliative care.

What’s new in congenital myopathies?

  • K. North
  • Medicine
    Neuromuscular Disorders
  • 2008

Consensus Statement for Standard of Care in Spinal Muscular Atrophy

It is the authors' intention that this document be used as a guideline, not as a practice standard for spinal muscular atrophy patients, because of the high level of uncertainty in these patients' care.

Minicore myopathy in children: a clinical and histopathological study of 19 cases

Nemaline myopathy: A clinical study of 143 cases

Arthrogryposis, neonatal respiratory failure, and failure to achieve early motor milestones were associated with early mortality, and aggressive early management is warranted in most cases of congenital nemaline myopathy.

Pregnancy in a Patient With Nemaline Myopathy

It is important that the clinician has a clear understanding of the clinical spectrum of nemaline myopathy, the available methods for perinatal diagnosis, and optimal antenatal care.

Management of myogenic ptosis.

Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children.

Eight unrelated children with centronuclear (myotubular) myopathy are described, ranging in age at the time of diagnosis from 5 days to 12 years, and detailed study of the parents in 7 of the families suggested an autosomal recessive inheritance or sporadic occurrence in 2 and X-linked inheritance in 5.

Nemaline and myotubular myopathies.

In the long-term management of patients with nemaline myopathy, respiratory capacity requires regular monitoring for early detection of insidious hypoventilation and treatment decisions can only be taken in casu.
...