Congenital myasthenic syndromes

Table 4 Differential diagnoses of CMS

Differential diagnosis	Early onset	Adult onset
FADS	yes	no
Periodic paralysis (SCNA4)	yes	yes
CDG	yes	no
Spinal muscular atrophy	yes	yes
Mitochondrial disorders	yes	yes
Myasthenia gravis	no	yes
Transient neonatal myasthenia	yes	no
Congenital muscular dystrophy	yes	no
Congenital myopathies	yes	no
Congenital myotonic dystrophy	yes	no
Brain stem abnormalities	yes	yes
Moebius syndrome	yes	no
(Infantile) botulism	yes	yes
Kennedy disease	no	yes
LGMD	yes	yes
FSH-MD	yes	yes
Hereditary neuropathies	yes	yes

FADS Fetal akinesia deformation sequence, CDG congenital disease of glycosylation, LGMD limb girdle muscular dystrophy, FSH-MD facio-scapulo-humeral muscular dystrophy

ISSN: 1750-1172