Congenital myasthenia with congenital endplate acetylcholinesterase deficiency (Q104865): Difference between revisions
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Deficiência de acetilcolinesterase (AChE) da placa motora autossômica recessiva, um subtipo de síndrome miastênica congênita (SMC) causada por mutações do peptídeo da cauda colagênia da acetilcolinesterase (ColQ) com início do nascimento até 2 anos, apresenta-se com hipotonia e fraqueza muscular proximal e/ou com marcos motores atrasados. Fraqueza muscular extraocular e ptose estão sempre presentes, sintomas bulbar em metade dos pacientes, crises respiratórias em um terço. Reflexo pupilar à luz ocasionalmente está lentificado. O curso varia de fraqueza grave e progressiva no neonato a sintomas menos graves durante a infância com progressão mínima. Mais de 80% deambula durante seguimento e não apresenta problemas respiratórios, à despeito de poderem apresentar crises. Os pacientes respondem à efedrina e salbutamol e não aos inibidores da AChE. | |||
| description / en | description / en | ||
Autosomal recessive endplate Acetylcholinesterase (AChE) deficiency, a Congenital myasthenic syndrome (CMS) subtype caused by Collagenic tail of endplate acetylcholinesterase (ColQ) mutations with onset from birth to 2 years, presents with hypotonia and proximal muscle weakness or delayed motor milestones. Extraocular muscle weakness and ptosis are always present, bulbar symptoms in half of the patients, respiratory crises in one-third. Occasionally delayed pupillary light reflex. The course varies from progressive severe weakness in the neonate to less severe symptoms during childhood with minimal progression. More than 80% is ambulant on follow-up and has no respiratory trouble despite crises. The patients respond to ephedrine and salbutamol, not to AChE inhibitors. | |||
Revision as of 10:43, 17 August 2026
Autosomal recessive endplate Acetylcholinesterase (AChE) deficiency, a Congenital myasthenic syndrome (CMS) subtype caused by Collagenic tail of endplate acetylcholinesterase (ColQ) mutations with onset from birth to 2 years, presents with hypotonia and proximal muscle weakness or delayed motor milestones. Extraocular muscle weakness and ptosis are always present, bulbar symptoms in half of the patients, respiratory crises in one-third. Occasionally delayed pupillary light reflex. The course varies from progressive severe weakness in the neonate to less severe symptoms during childhood with minimal progression. More than 80% is ambulant on follow-up and has no respiratory trouble despite crises. The patients respond to ephedrine and salbutamol, not to AChE inhibitors.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1394279590 |
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| English | Congenital myasthenia with congenital endplate acetylcholinesterase deficiency |
Autosomal recessive endplate Acetylcholinesterase (AChE) deficiency, a Congenital myasthenic syndrome (CMS) subtype caused by Collagenic tail of endplate acetylcholinesterase (ColQ) mutations with onset from birth to 2 years, presents with hypotonia and proximal muscle weakness or delayed motor milestones. Extraocular muscle weakness and ptosis are always present, bulbar symptoms in half of the patients, respiratory crises in one-third. Occasionally delayed pupillary light reflex. The course varies from progressive severe weakness in the neonate to less severe symptoms during childhood with minimal progression. More than 80% is ambulant on follow-up and has no respiratory trouble despite crises. The patients respond to ephedrine and salbutamol, not to AChE inhibitors. |
