I. Clinical clues of CMS subtypes |
Early-onset phenotypes (neonatal, lactancy, early infancy) |
ChAT deficiency, synaptotagmin-2 deficiency, acetylcholinesterase, slow-channel syndrome, fast-channel syndrome, agrin deficiency, LRP4 deficiency, MuSK deficiency, Dok-7 deficiency, rapsyn deficiency, GFPT1, ALG2, ALG14, GMPPB, PREPL deficiency, plectin deficiency, SCN4A, COL13A1
|
Late-onset phenotypes (late infancy, adolescence, juvenile, adult) |
Acetylcholinesterase deficiency (variants), slow-channel syndrome, agrin deficiency, SCN4A
|
LGMD-like phenotype |
GFPT1, LRP4 deficiency, plectin deficiency |
Apneic episodes |
ChAT deficiency, SCN4A
|
Laryngeal stridor and vocal cord palsy |
Dok-7 deficiency |
Epilepsy with intellectual disability |
DPAGT1 deficiency |
Cerebellar ataxia |
SNAP25B
|
Pupillary defects |
ColQ mutations |
Ptosis |
Primary AChR deficiency, Dok-7 deficiency, SNAP25B, agrin deficiency, MuSK deficiency, rapsyn deficiency, PREPL, congenital myopathies, COL13A1
|
Ophthalmoparesis (± strabismus) |
Rapsyn deficiency, primary AChR deficiency, MuSK deficiency, Dok-7 deficiency, congenital myopathies |
Facial palsy |
Agrin deficiency, MuSK deficiency, Dok-7 deficiency, rapsyn deficiency, PREPL, congenital myopathies |
Cervical weakness |
Slow-channel syndrome, Dok-7 deficiency, COL13A1
|
Arthrogryposis multiplex congenital-like phenotype and early-onset joint contractures |
Rapsyn deficiency, ChAT deficiency, AChR deficiency (CHRND, CHRNG), SNAP25B, synaptotagmin-2 |
Dysmorphic features |
Rapsyn deficiency, β2-laminin deficiency, COL13A1
|
Congenital malformations |
Pierson syndrome (β2-laminin: ocular malformation, congenital nephrosis); rapsyn deficiency; GFPT1 deficiency; SLC25A1 (optic nerve hypoplasia, corpus callosum agenesis) |
Anoxic encephalopathy-like phenotype |
Rapsyn deficiency, SCN4A
|
Epidermolysis bullosa simplex |
Plectin deficiency |
II. Histopathological clues of CMS subtypes |
Tubular aggregates in the sarcoplasmic reticulum |
GFPT1, DPAGT1 and ALG2-related CMS subtypes |
Vacuolar autophagic myopathy |
GFPT1 and DPAGT1-related subtypes |