Main clinical features of SLC18A3 -associated fetal akinesia deformation sequence (FADS):
• fetal akinesia
• arthrogryposis
• hydrops
• fetal anomalies (for example cleft palate)
Main clinical features of SLC18A3 -associated congenital myasthenic syndromes (CMS):
• muscle fatigability and weakness
• ptosis
• ophthalmoplegia
• respiratory insufficiency, apneic episodes
• feeding difficulties
• poor suck and cry
• arthrogryposis, contractures
• global developmental delay
• gastroesophageal reflux
The oldest patient described in the literature was 16 years old (O’Grady et al.). He was ambulatory and was described to have fatigable weakness, ptosis, ophthalmoplegia and mild learning difficulties. He was homozygous for the c.557G>C; p.(Gly186Ala) variant. None of the remaining patients are ambulatory, but some are still infants/toddlers.
SLC18A3