PMID- 21952943
OWN - NLM
STAT- MEDLINE
DCOM- 20111205
LR  - 20211020
IS  - 1097-4598 (Electronic)
IS  - 0148-639X (Print)
IS  - 0148-639X (Linking)
VI  - 44
IP  - 5
DP  - 2011 Nov
TI  - Beneficial effects of albuterol in congenital endplate acetylcholinesterase 
      deficiency and Dok-7 myasthenia.
PG  - 789-94
LID - 10.1002/mus.22176 [doi]
AB  - INTRODUCTION: Congenital myasthenic syndromes (CMS) are disabling but treatable 
      disorders. Anticholinesterase therapy is effective in most of them, but is 
      contraindicated in endplate (EP) acetylcholinesterase (AChE) deficiency, the 
      slow-channel syndrome, Dok-7 myasthenia, and beta(2) -laminin deficiency, and is not 
      useful in CMS due to defects in muscle-specific kinase (MuSK), agrin, and 
      plectin. EP AChE, Dok-7, and beta(2)-laminin deficiencies respond favorably to 
      ephedrine, but ephedrine can no longer be prescribed in the USA. METHODS: We used 
      albuterol, another sympathomimetic agent, to treat 3 patients with EP AChE 
      deficiency and 15 with Dok-7 myasthenia. Response to therapy was evaluated by a 
      9-point questionnaire pertaining to activities of daily life. RESULTS: Comparison 
      of the pre- and posttreatment responses indicated a beneficial response to 
      albuterol (P < 0.001) in both patient groups. The adverse effects of therapy were 
      like those of ephedrine. CONCLUSION: Our observations should spur controlled, 
      prospective clinical trials of albuterol in these as well as other CMS.
CI  - Copyright (c) 2011 Wiley Periodicals, Inc.
FAU - Liewluck, Teerin
AU  - Liewluck T
AD  - Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic 
      College of Medicine, 200 First Street SW, Rochester, Minnesota 55905, USA.
FAU - Selcen, Duygu
AU  - Selcen D
FAU - Engel, Andrew G
AU  - Engel AG
LA  - eng
GR  - R01 NS006277/NS/NINDS NIH HHS/United States
GR  - R01 NS006277-46/NS/NINDS NIH HHS/United States
GR  - R56 NS006277/NS/NINDS NIH HHS/United States
GR  - NS6277/NS/NINDS NIH HHS/United States
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20110923
PL  - United States
TA  - Muscle Nerve
JT  - Muscle & nerve
JID - 7803146
RN  - 0 (DOK7 protein, human)
RN  - 0 (Muscle Proteins)
RN  - EC 3.1.1.7 (Acetylcholinesterase)
RN  - QF8SVZ843E (Albuterol)
SB  - IM
MH  - Acetylcholinesterase/*deficiency
MH  - Adolescent
MH  - Adult
MH  - Albuterol/pharmacology/*therapeutic use
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Motor Endplate/drug effects/*enzymology/genetics
MH  - *Muscle Proteins/genetics
MH  - Myasthenic Syndromes, Congenital/*drug therapy/*enzymology/genetics
MH  - Surveys and Questionnaires
MH  - Young Adult
PMC - PMC3196786
MID - NIHMS298270
EDAT- 2011/09/29 06:00
MHDA- 2011/12/13 00:00
PMCR- 2012/11/01
CRDT- 2011/09/29 06:00
PHST- 2011/05/18 00:00 [accepted]
PHST- 2011/09/29 06:00 [entrez]
PHST- 2011/09/29 06:00 [pubmed]
PHST- 2011/12/13 00:00 [medline]
PHST- 2012/11/01 00:00 [pmc-release]
AID - 10.1002/mus.22176 [doi]
PST - ppublish
SO  - Muscle Nerve. 2011 Nov;44(5):789-94. doi: 10.1002/mus.22176. Epub 2011 Sep 23.