end-plate acetylcholinesterase deficiency (congenital myasthenic syndrome type 1C)

Epidemiology

rare

Pathology

• morphological abnormalities of the neuromuscular junctions

Genetics

• autosomal recessive
• associated with defects in COLQ gene

Clinical manifestations

• onset during childhood
• generalized weakness
• abnormal fatigability on exertion

Diagnostic procedures

• decremental electromyographic response

Management

• refractory to acetylcholinesterase drugs

More general terms

• myasthenic syndrome (congenital myasthenic syndrome, CMS)

Additional terms

• acetylcholinesterase-associated collagen (acetylcholinesterase collagenic tail peptide, AChE Q subunit, COLQ)

Database

• OMIM: https://mirror.omim.org/entry/603034