0000000000754965
AUTHOR
B. Reitter
Mehrsegmentale Fusion der Skoliose bei Duchenne-Muskeldystrophie
Operations in scoliosis in patients suffering from an advanced stage of Duchenne muscular dystrophy are associated with a higher risk due to the extent of the curves, the respiratory insufficiency and frequent cardiomyopathia. Progressive scolioses in 20 wheelchair patients with an age between 10.5-18.3 years (mean 14.6 years) were treated by CDI. The mean preoperative angle in this group was 70.6 degrees, the postoperative angle 31.2 degrees (mean correction 39.4 degrees or 55.8%). The preoperative lordosis of the lumbar spine (mean angle 4.1 degrees) was corrected to 17.8 degrees postoperatively. The average intraoperative blood loss (2300 ccm) was evident more compared with idiopathic sc…
Severe congenital myasthenic syndrome due to homozygosity of the 1293insG ε-acetylcholine receptor subunit mutation
Recently, a congenital myasthenic syndrome (CMS) with end-plate acetylcholine receptor (AChR) deficiency due to missense mutations in the genes for the AChR subunit was described. The first observed patient with this CMS was heteroallelic for the two epsilon-AChR subunit mutations epsilon1101insT and epsilon1293insG. This patient had only a moderate phenotype with mild muscle weakness and abnormal fatigue. We have now found homozygosity for the epsilon1293insG mutation in a severely affected CMS patient, who lost the ability to walk in midchildhood and shows profound weakness and muscle wasting. Our observation allows a genotype-phenotype correlation illustrating how differences in the AChR…