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DOK7 congenital myasthenic syndrome
Author(s) -
Palace Jacqueline
Publication year - 2012
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/j.1749-6632.2012.06779.x
Subject(s) - congenital myasthenic syndrome , neuromuscular junction , weakness , medicine , wasting , postsynaptic potential , biology , neuroscience , anatomy , acetylcholine receptor , receptor
Despite being a fairly recent discovery, DOK7 congenital myasthenic syndrome (CMS) is the third most common form of CMS in the United Kingdom. DOK7 is a postsynaptic protein associated with the AChR clustering pathway. In contrast to AChR deficiency due to epsilon subunit mutations, onset of DOK7 CMS tends to be later—ages two to three years—and in DOK7 CMS eye movements are usually spared and anticholinesterases can exacerbate the weakness. The typical phenotype of DOK7 CMS is of a limb girdle weakness with associated nonspecific myopathic features. The presence of stridor in early onset cases and the observation of tongue wasting may be specific clues. Worsening in adulthood is common, particularly affecting bulbar and respiratory function. Treatment with ephedrine or oral salbutamol can result in a slow, steady, and often dramatic improvement over months.