Therapeutic Strategies in Congenital Myasthenic Syndromes
✍ Scribed by Ulrike Schara; Hanns Lochmüller
- Publisher
- Springer-Verlag
- Year
- 2008
- Tongue
- English
- Weight
- 388 KB
- Volume
- 5
- Category
- Article
- ISSN
- 1933-7213
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📜 SIMILAR VOLUMES
Congenital myasthenic syndromes (CMSs) are heterogeneous disorders in which the safety margin of neuromuscular transmission is compromised by one or more mechanisms. Specific diagnosis of a CMS is important as some medications that benefit one type of CMS can be detrimental in another type. In some
We studied 4 siblings (3 men and 1 woman), ages 22 to 43 years, with congenital ptosis, external ophthalmoplegia, proximal muscle weakness and fatigability unresponsive to acetylcholinesterase (AChE) inhibitors. Repetitive nerve stimulation showed a significant compound muscle action potential (CMAP