Catalog
Congenital myasthenic syndromes
Link to WHO Definition
Congenital myasthenic syndromes – http://id.who.int/icd/entity/1515367530
Congenital myasthenic syndrome (CMS) is a heterogeneous group of genetically determined diseases. There are four well-defined categories: Congenital myasthenic syndrome with presynaptic defect, Synaptic basal lamina-associated CMS, Congenital myasthenia with postsynaptic defect, CMS with glycosylation deficiency, and the remaining category is that of unidentified CMS.
Parents
Children
- Certain specified congenital or developmental myasthenia
- Familial infantile myasthenia
- Congenital endplate acetylcholine receptor deficiency
- Congenital myasthenia with presynaptic defect
- Congenital myasthenic syndrome with glycosylation deficiency
- Congenital amyotonia
- Congenital slow channel syndrome
- Limb-girdle myasthenia, familial
- Congenital myasthenia with postsynaptic defect
- Limb-girdle myasthenia, nonfamilial
- Congenital myasthenia with synaptic basal lamina defects