Congenital myasthenic syndromes

Description

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.

Index terms

Congenital myasthenic syndromes
congenital and developmental myasthenia
congenital myasthenia

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developmental myasthenia
Congenital endplate acetylcholine receptor deficiency
congenital defects in acetylcholine receptor subunits
Congenital slow channel syndrome
Congenital myasthenia with presynaptic defect
Congenital myasthenia with postsynaptic defect
post synaptic congenital myasthenic syndrome
Congenital myasthenic syndrome with glycosylation deficiency
Congenital myasthenia with synaptic basal lamina defects
Congenital myasthenia with congenital endplate acetylcholinesterase deficiency
Familial infantile myasthenia
Limb-girdle myasthenia, familial
Limb-girdle myasthenia, nonfamilial
myasthenic myopathy, nonfamilial
Certain specified congenital or developmental myasthenia
inherited neuromuscular disorders
Congenital amyotonia
Oppenheim disease
amyotonia congenita

Exclusions from above levels

05 – Endocrine, nutritional or metabolic diseases
18 – Complications of pregnancy, childbirth and the puerperium
19 – Certain conditions originating in the perinatal period

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22 – Injury, poisoning or certain other consequences of external causes

Sibling codes

8C60 – Myasthenia gravis
8C62 – Lambert-Eaton syndrome
8C6Y – Other specified neuromuscular junction disorders
8C6Z – Neuromuscular junction disorders, unspecified

Foundation entity

Congenital myasthenic syndromes – http://id.who.int/icd/entity/1515367530

Part of: 08: Diseases of the nervous system