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Congenital myasthenic syndromes
1Krankenanstalt Rudolfstiftung, Messerli Institute, Veterinary University of Vienna, Postfach 20, 1180, Vienna, Austria. fifigs1@yahoo.de.
Orphanet Journal of Rare Diseases
|February 28, 2019
Summary
Congenital myasthenic syndromes (CMSs) are genetic neuromuscular disorders affecting neuromuscular transmission. Many CMS types show good response to treatments that enhance nerve-muscle communication.
Area of Science:
- Neurology
- Genetics
- Molecular Biology
Background:
- Congenital myasthenic syndromes (CMSs) represent a diverse group of inherited neuromuscular disorders.
- These conditions are characterized by impaired neuromuscular transmission, leading to muscle weakness.
Purpose of the Study:
- To review and synthesize current knowledge on the causes, symptoms, diagnosis, and treatments of CMSs.
- To highlight recent advancements in the understanding and management of these heterogeneous disorders.
Main Methods:
- Systematic literature review of congenital myasthenic syndromes.
- Analysis of genetic mutations, clinical presentations, diagnostic findings, and therapeutic responses.
Main Results:
- Mutations in 32 genes cause autosomal dominant or recessive CMSs, affecting presynaptic, synaptic, postsynaptic, or glycosylation proteins.
- Clinical manifestations include fatigability, muscle weakness, hypotonia, and developmental delay, with rare cognitive or neurological comorbidities.
- Diagnostic tools like nerve stimulation and SF-EMG reveal abnormalities in neuromuscular transmission; most CMSs respond to medications enhancing transmission.
Conclusions:
- CMSs are increasingly recognized genetic disorders.
- Effective treatments often involve drugs that improve neuromuscular transmission, necessitating differentiation from other neuromuscular conditions.
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