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Table 4 Differential diagnoses of CMS

From: Congenital myasthenic syndromes

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