Iranian clinicians report on a large cohort of 26 patients followed for an average of nine years and in whom the diagnosis of congenital myasthenic syndrome (CMS) with COLQ deficiency has been formally proven:
- the clinical, electrophysiological and molecular data of these patients were compiled,
- signs of onset usually consisted of ptosis, ophthalmoparesis and limb-girdle muscle deficits,
- a significant decrement was found on EMG in all patients, and three-quarters of them also had a split appearance of the compound action potential (CMAP),
- genetic analysis confirmed the diagnosis but did not reveal any founder mutations in the COLQ gene
- the most effective treatment proved to be ephedrine and salbutamol.
The data accumulated in this large series of patients will help us to better understand the natural history of this form of MSC.
