Endplate Acetylcholinesterase Deficiency

Also Known As:

Congenital Myasthenic Syndrome Type Ic; Engel Congenital Myasthenic Syndrome; Myasthenic Syndrome, Congenital, Engel Type

Networked: 9 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
- Neuromuscular Diseases: 2005
  - Neuromuscular Junction Diseases: 83
    - Congenital Myasthenic Syndromes: 467
      - Endplate Acetylcholinesterase Deficiency: 9
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Congenital Myasthenic Syndromes: 467
    - Endplate Acetylcholinesterase Deficiency: 9

Related Diseases

1.	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)
2.	Ophthalmoplegia (External Ophthalmoplegia)

Experts

1.	Ito, Mikako: 2 articles (07/2013 - 08/2009)
2.	Masuda, Akio: 2 articles (07/2013 - 08/2009)
3.	Ohno, Kinji: 2 articles (07/2013 - 08/2009)
4.	Abitbol, Marie: 1 article (01/2015)
5.	Blanchard-Gutton, Nicolas: 1 article (01/2015)
6.	Blot, Stéphane: 1 article (01/2015)
7.	Bossé, Philippe: 1 article (01/2015)
8.	Hitte, Christophe: 1 article (01/2015)
9.	Martignat, Lionel: 1 article (01/2015)
10.	Thomas, Anne: 1 article (01/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Endplate Acetylcholinesterase Deficiency:

1.	AcetylcholinesteraseIBA 03/01/2007 - "Mutations in the COLQ gene that encodes the collagenic tail subunit (ColQ) of asymmetric acetylcholinesterase lead to endplate acetylcholinesterase deficiency. " 08/01/2009 - "(2) Collagen Q (ColQ) anchors acetylcholinesterase at the synaptic basal lamina, and its defects cause endplate acetylcholinesterase deficiency. " 01/01/2015 - "In that region, we further identified COLQ (collagen-like tail subunit of asymmetric acetylcholinesterase) as a good candidate gene, since COLQ mutations were identified in affected humans and dogs with endplate acetylcholinesterase deficiency leading to a synaptic form of congenital myasthenic syndrome (CMS). "
2.	CollagenIBA 08/01/2009 - "(2) Collagen Q (ColQ) anchors acetylcholinesterase at the synaptic basal lamina, and its defects cause endplate acetylcholinesterase deficiency. " 01/01/2015 - "In that region, we further identified COLQ (collagen-like tail subunit of asymmetric acetylcholinesterase) as a good candidate gene, since COLQ mutations were identified in affected humans and dogs with endplate acetylcholinesterase deficiency leading to a synaptic form of congenital myasthenic syndrome (CMS). "
3.	Ephedrine FDA LinkGeneric 07/12/2005 - "Congenital endplate acetylcholinesterase deficiency responsive to ephedrine."
4.	EnzymesIBA 02/01/1999 - "Endplate acetylcholinesterase deficiency is now known to be caused by mutations in the collagenic tail subunit of the asymmetric enzyme that prevents the association of the collagenic tail subunit with the catalytic subunit or its insertion into the basal lamina."
5.	Cholinesterase Inhibitors (Anticholinesterases)IBA 03/01/2003 - "Congenital myasthenic syndromes with endplate acetylcholinesterase deficiency are very rare autosomal recessive diseases, characterized by onset of the disease in childhood, general weakness increased by exertion, ophthalmoplegia and refractoriness to anticholinesterase drugs. "
6.	Anesthetics (Anesthetic Agents)IBA 08/01/2014 - "We report anesthetic management of a CMS patient who was a 14-year-old boy with endplate acetylcholinesterase deficiency. "
7.	Albuterol (Salbutamol)FDA LinkGeneric 11/01/2011 - "Beneficial effects of albuterol in congenital endplate acetylcholinesterase deficiency and Dok-7 myasthenia."
8.	muskIBA 07/01/2013 - "Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction."