Differenzialdiagnostik eines kongenitalen myasthenen Syndroms [Differential congenital myasthenia syndrome diagnosis]
- S. Spuler
- T.N. Lehmann
- A.G. Engel
- Nervenarzt 75 (2): 141-144
Among myopathies and disorders of neuromuscular transmission, the congenital myasthenic syndromes (CMS) are particularly rare. However, because of the available therapeutic options, it is still clinically important to achieve a correct diagnosis in these patients. We report an adult patient with ophthalmoplegia and nonfluctuating limb-girdle syndrome. For almost 20 years, a congenital myopathy or mitochondriopathy had been suspected before CMS was diagnosed caused by an epsilon subunit mutation of the acetylcholine receptor (epsilon1276delG).