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