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MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL(CMS1A; CMS2A, FORMERLY)

MedGen UID:
903294
•Concept ID:
C4084823
•
Disease or Syndrome
Synonyms: CMS IIa, FORMERLY; CMS1A; CMS2A, FORMERLY; MYASTHENIC SYNDROME, CONGENITAL, TYPE IIa, FORMERLY
 
OMIM®: 100690; 601462

Recent clinical studies

Diagnosis

Congenital endplate acetylcholinesterase deficiency responsive to ephedrine.
Bestue-Cardiel M, Sáenz de Cabezón-Alvarez A, Capablo-Liesa JL, López-Pisón J, Peña-Segura JL, Martin-Martinez J, Engel AG
Neurology 2005 Jul 12;65(1):144-6. doi: 10.1212/01.wnl.0000167132.35865.31. PMID: 16009904

Therapy

Congenital endplate acetylcholinesterase deficiency responsive to ephedrine.
Bestue-Cardiel M, Sáenz de Cabezón-Alvarez A, Capablo-Liesa JL, López-Pisón J, Peña-Segura JL, Martin-Martinez J, Engel AG
Neurology 2005 Jul 12;65(1):144-6. doi: 10.1212/01.wnl.0000167132.35865.31. PMID: 16009904

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