Clinical features of the five patients with RAPSN mutations
| Patients/ sex (M/F) | Family history | Onset | Initial symptoms | Symptoms during evolution | Presenting examination (age/signs) | Anticholinesterase (age at/effect) | Decrement |
|---|---|---|---|---|---|---|---|
| Patient 1/ M | Brother of patient 2 | Childhood | Fluctuating ptosis | 15 y/limb fatigability, girdle weakness | 51 y/ptosis, neck fatigability | 51 y/positive (ambenonium) | Yes |
| Patient 2/ M | Brother of patient 1 | Childhood | Fluctuating ptosis, limb weakness | 20 y/diplopia, stability of other symptoms | 43 y/ptosis, ophthalmoplegia, limb weakness | 43 y/negative (only parenteral neostigmine tested) | Yes |
| Patient 3/ F | No | Birth | Hypotonia, swallowing and sucking disturbances | First 4 mth/multiple hospitalisations for choking, hypotonia, vagal episodes, 5 mth: cardiac arrest, tracheostomy | 5 mth/facial diparesis, hypotonia, limb weakness | 3 m/positive (oral neostigmine) | Yes |
| Patient 4/ M | Sister: sudden death at 12 mth, arthrogryposis | Fetal | Hydramnios, arthrogryposis, hypotonia, respiratory distress, intubation day 1 to 8 | Ptosis, ophthalmoplegia, facial diparesia, choking, scoliosis, 6 mth: respiratory distress | 3 y/ptosis, fatigability, no limb weakness, open mouth | 6 m/positive (pyridostigmine bromide) | Yes (20 Hz only) |
| Patient 5/ F | No | Fetal | Arthrogryposis, respiratory distress (intubation at birth), feeding problems | 4 mth/tracheostomy, 7 mth/jejunostomy, 2.5 y/cardiorespiratory arrest, severe neck + limb weakness | 7.5 y/severe proximal weakness, no unaided walking | 8 y/positive. After pyridostigmine bromide: walking alone, no more ventilation | Yes |