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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