Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol

Sophelia H S Chan, Virginia C N Wong, Andrew G Engel

Research output: Contribution to journalArticle

18 Citations (Scopus)

Abstract

Congenital myasthenic syndrome caused by endplate acetylcholinesterase deficiency constitutes a rare autosomal recessive disease. We describe a child with early-onset ptosis, complete ophthalmoplegia, facial and proximal muscle weakness, easy fatigability, a decremental electromyographic response, and a repetitive compound muscle action potential not improved by anti- acetylcholinesterase medication. Mutation analysis of the collagenic tail of endplate acetylcholinesterase (COLQ) that encodes the collagenic structural subunit of acetylcholinesterase revealed two canonic splice-site mutations: a previously identified IVS15 + 1G>A mutation and a novel IVS2 - 1G>A mutation. Treatment with albuterol resulted in progressive improvement of muscle strength, exercise tolerance, and ophthalmoplegia. Further studies are needed of the efficacy of albuterol in different types of congenital myasthenic syndrome and the physiologic basis of its beneficial effects.

Original languageEnglish (US)
Pages (from-to)137-140
Number of pages4
JournalPediatric Neurology
Volume47
Issue number2
DOIs
StatePublished - Aug 2012

Fingerprint

Albuterol
Neuromuscular Junction
Acetylcholinesterase
Congenital Myasthenic Syndromes
Ophthalmoplegia
Mutation
Facial Muscles
Exercise Tolerance
Muscle Weakness
Muscle Strength
Action Potentials
Muscles
Therapeutics

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol. / Chan, Sophelia H S; Wong, Virginia C N; Engel, Andrew G.

In: Pediatric Neurology, Vol. 47, No. 2, 08.2012, p. 137-140.

Research output: Contribution to journalArticle

Chan, Sophelia H S ; Wong, Virginia C N ; Engel, Andrew G. / Neuromuscular junction acetylcholinesterase deficiency responsive to albuterol. In: Pediatric Neurology. 2012 ; Vol. 47, No. 2. pp. 137-140.
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