Table 1

Clinical features of the five patients with RAPSN mutations

Patients/ sex (M/F)Family historyOnsetInitial symptomsSymptoms during evolutionPresenting examination (age/signs)Anticholinesterase (age at/effect)Decrement
Patient 1/ MBrother of patient 2ChildhoodFluctuating ptosis15 y/limb fatigability, girdle weakness51 y/ptosis, neck fatigability51 y/positive (ambenonium)Yes
Patient 2/ MBrother of patient 1ChildhoodFluctuating ptosis, limb weakness20 y/diplopia, stability of other symptoms43 y/ptosis, ophthalmoplegia, limb weakness43 y/negative (only parenteral neostigmine tested)Yes
Patient 3/ FNoBirthHypotonia, swallowing and sucking disturbancesFirst 4 mth/multiple hospitalisations for choking, hypotonia, vagal episodes, 5 mth: cardiac arrest, tracheostomy5 mth/facial diparesis, hypotonia, limb weakness3 m/positive (oral neostigmine)Yes
Patient 4/ MSister: sudden death at 12 mth, arthrogryposisFetalHydramnios, arthrogryposis, hypotonia, respiratory distress, intubation day 1 to 8Ptosis, ophthalmoplegia, facial diparesia, choking, scoliosis, 6 mth: respiratory distress3 y/ptosis, fatigability, no limb weakness, open mouth6 m/positive (pyridostigmine bromide)Yes (20 Hz only)
Patient 5/ FNoFetalArthrogryposis, respiratory distress (intubation at birth), feeding problems4 mth/tracheostomy, 7 mth/jejunostomy, 2.5 y/cardiorespiratory arrest, severe neck + limb weakness7.5 y/severe proximal weakness, no unaided walking8 y/positive. After pyridostigmine bromide: walking alone, no more ventilationYes