8C61
category
Congenital myasthenic syndromes
Definition
A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the neuromuscular junction. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (receptors, nicotinic) on the postsynaptic surface of the junction. These are characterized by fatigable weakness involving ocular, bulbar, and limb muscles secondary to congenital abnormalities leading to disordered transmission at the neuromuscular junction.
Also indexed as
Certain specified congenital or developmental myastheniaCongenital amyotoniaCongenital endplate acetylcholine receptor deficiencyCongenital myasthenia with congenital endplate acetylcholinesterase deficiencyCongenital myasthenia with postsynaptic defectCongenital myasthenia with presynaptic defectCongenital myasthenia with synaptic basal lamina defectsCongenital myasthenic syndrome with glycosylation deficiencyCongenital myasthenic syndromesCongenital slow channel syndromeFamilial infantile myastheniaLimb-girdle myasthenia, familialLimb-girdle myasthenia, nonfamilialOppenheim diseaseamyotonia congenitacongenital and developmental myastheniacongenital defects in acetylcholine receptor subunitscongenital myastheniadevelopmental myastheniainherited neuromuscular disordersmyasthenic myopathy, nonfamilialpost synaptic congenital myasthenic syndrome