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Start free with EleplanCongenital myasthenic syndrome with glycosylation defect
ORPHA:353327Etiological subtype
What it is
Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Etiological subtype
Signs and symptoms
Common30–79%
14- Abnormal peripheral nervous system synaptic transmission
- Areflexia
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
- Fatigable weakness
- Favorable response of weakness to acetylcholine esterase inhibitors
- Generalized hypotonia
- High palate
- Increased jitter at single fibre EMG
- Limb-girdle muscle weakness
- Motor delay
- Muscle fiber tubular inclusions
- Myopathy
- Pes planus
- Proximal muscle weakness
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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