Anticholinesterase Therapy Worsening Head Drop and Limb Weakness Due to a Novel XXXX Mutation.

@entity1 @entity71412 @entity3045 @entity4836 @entity1737 @entity425 @entity74 @entity8491 @entity71411 @entity121 @entity47460
UNASSIGNED: @entity47460 @entity1737 is an @entity74 due to @entity47460 mutations. Anticholinesterase therapy is ineffective and may worsen the @entity425 in @entity1 with @entity47460 @entity1737 or few other forms of @entity8491 . We describe a 31-year-old @entity1 previously diagnosed with seronegative @entity1737 . Repetitive stimulation of the right spinal accessory nerve showed 51% decrement. Needle electromyography revealed @entity121 in clinically affected muscles. Muscle biopsy was normal. The @entity1 was referred to us for worsening @entity425 after taking @entity4836 . We searched for @entity47460 mutations and identified compound heterozygous mutations of a common @entity71411 mutation and a novel splice site mutation, @entity71412 . Discontinuation of @entity4836 improved @entity425 . He further regained strength with oral @entity3045 therapy and decrement was reduced to 25%. Worsening of symptoms with anticholinesterase therapy in @entity1 with "seronegative @entity1737 " should prompt clinicians to consider a possibility of @entity8491 to avoid unnecessary use of immunosuppressive therapy. @entity1 with @entity47460 @entity1737 respond well to oral @entity3045 treatment.
