Abstract
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 (ε1276delG).
Translated title of the contribution | Differential diagnosis of congenital myasthenic syndromes |
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Original language | German |
Pages (from-to) | 141-144 |
Number of pages | 4 |
Journal | Nervenarzt |
Volume | 75 |
Issue number | 2 |
DOIs | |
State | Published - Feb 2004 |
Keywords
- Acetylcholine esterase inhibitor
- Congenital myasthenic syndrome
- Congenital myopathy
- Mitochondriopathy
- Ophthalmoplegia
ASJC Scopus subject areas
- Neurology
- Clinical Neurology
- Psychiatry and Mental health