8C61

Congenital myasthenic syndromes

Síndromes miastênicas congênitas

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.

Diagnostic Criteria

Signs & symptoms: Weakness usually involving ocular, bulbar and limb muscles since infancy or early childhood. There is often family history of similarly affected members.

Index Terms

Congenital myasthenic syndromescongenital and developmental myastheniadevelopmental myastheniacongenital myastheniaCongenital endplate acetylcholine receptor deficiencycongenital defects in acetylcholine receptor subunitsCongenital slow channel syndromeCongenital myasthenia with presynaptic defectCongenital myasthenia with postsynaptic defectpost synaptic congenital myasthenic syndromeCongenital myasthenic syndrome with glycosylation deficiencyCongenital myasthenia with synaptic basal lamina defectsCongenital myasthenia with congenital endplate acetylcholinesterase deficiencyFamilial infantile myastheniaLimb-girdle myasthenia, familialLimb-girdle myasthenia, nonfamilialmyasthenic myopathy, nonfamilialCertain specified congenital or developmental myastheniainherited neuromuscular disordersCongenital amyotoniaamyotonia congenitaOppenheim disease

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