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Table 3 Typical clinical manifestations of CMS subtypes

From: Congenital myasthenic syndromes

Phenotypic feature

CMS subtypes

Myopathic

 LGMD-type

COLQ, DOK7, MUSK, GFPT1, ALG2, ALG14, DPAGT1

 Respiratory insufficiency

SLC18A3, SYB1, COLQ, LAMB2, CHRNB1, CHRND, CHRNE, CHRNG, MUSK, NYO9A, LRP4, COL13A1, SCN4A, RAPS

 Episodic apnea

CHAT, MUSK, SLC5A7, SLC25A1, RAPSN, COLQ

 Head drop

AGRN

 Myopathic EMG

CHRNB1, ALG2, PLEC1, GMPPB

 Double response

CHRNE, COLQ, SCCMS, ACHE-deficiency, CHRNA1, CHRNB1, CHRND

Non-myopathic

 Cognitive dysfunction

SLC25A7, DPAGT1, SNAP25, COL13A1, MYO9A, CHRNB1, CHRND

 Facial tics

LAMA5

 Cerebral atrophy

SCN4A, ALG14

 Agenesis of corpus callosu

SLC25A1

 Epilepsy

ALG14, SLC25A1, MUNC13–1

 Facial dysmorphism

SYB1, RAPSN, SCN4A, COLQ

 Myopia

LAMA5

 Hypoacusis

SLC25A1, SYT2

 Vocal cord paralysis

COLQ, DOK7

 Neuropathy

SYT2, SLC25A7

 Arthrogryposis multiplex

SLC5A7, CHRNG

 Contractures

SNAP25, VAMP1, CHRNA1, ALG2, ALG14, RAPSN, CHRND, CHRNG, CHAT

 Scoliosis

COLQ, CHRNE, VAMP1

 Hyperlordosis, hyperkyphosis

SCNA4, RAPSN, SYB1

 Adduction deformity of knees

SCN4A

 Cubitus valgus

PLEC1

 Foot deformity

SYT2, RAPSN, CHRNG, SLC25A1, COLQ

 Hyperlaxity of joints

SYT2, VAMP1, COL13A1

 Cutaneous blisters

PLEC1

 Pterygia

CHRNG

 Systolic dysfunction

SLC18A3

 Pierson syndrome

LAMB2

 Cerebellar ataxia

SNAP25

 Laryngospasm

SCN4A

 Deterioration in cold water

SLC18A3

 Hip dysplasia

SYT2

 Cryptorchism

CHRNG

 Arachnodactylia

CHRNG

 Microcephaly

MUNC13–1