Congenital myasthenic syndromes (CMS):
The genetic etiology of congenital myasthenic syndromes (CMS) is heterogeneous. Although no consensus guidelines exist for the treatment of CMS, published expert recommendations may be followed (for example https://www.ncbi.nlm.nih.gov/books/NBK1168/ ). It is important to use caution with drugs that may exacerbate the symptoms. Some clinical improvement of myasthenic symptoms has been observed in patients with SLC18A3 mutations when starting pyridostigmine treatment, but the symptoms do not fully resolve. Lamond et al. (BMJ Case Rep 2021) propose that 3,4-diaminopyridine can also be used “with caution due to potential of insufficient acetylcholine release, but it can be considered in children older than 2 years for symptom improvement.” Symptomatic treatments are adapted to the needs of the patient.
Fetal akinesia deformation sequence (FADS):
The diagnosis of fetal akinesia deformation syndrome (FADS) early in pregnancy is associated with a dismal prognosis and different options need to be discussed with the couple.
SLC18A3