MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CMS1A1 FIM1 CONGENITAL MYASTHENIC SYNDROME TYPE Ia1 CMS Ia1 |
| Number of Symptoms | 30 |
| OrphanetNr: | |
| OMIM Id: |
605809
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
Congenital onset [Omim] |
Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000486) | Strabismus | 576 / 7739 | ||||
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(HPO:0000508) | Ptosis | 459 / 7739 | ||||
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(HPO:0000597) | Ophthalmoparesis | 71 / 7739 | ||||
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(HPO:0002015) | Dysphagia | 301 / 7739 | ||||
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(HPO:0003397) | Generalized hypotonia due to defect at the neuromuscular junction | 2 / 7739 | ||||
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(HPO:0003473) | Fatigable weakness | 39 / 7739 | ||||
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(HPO:0003402) | Decreased miniature endplate potentials | 3 / 7739 | ||||
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(HPO:0003388) | Easy fatigability | 34 / 7739 | ||||
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(HPO:0008872) | Feeding difficulties in infancy | 153 / 7739 | ||||
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(HPO:0002033) | Poor suck | 37 / 7739 | ||||
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(HPO:0002098) | Respiratory distress | 75 / 7739 | ||||
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(HPO:0002747) | Respiratory insufficiency due to muscle weakness | 48 / 7739 | ||||
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(HPO:0001612) | Weak cry | 17 / 7739 | ||||
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(HPO:0002872) | Apneic episodes precipitated by illness, fatigue, stress | 3 / 7739 | ||||
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(HPO:0002882) | Sudden episodic apnea | 3 / 7739 | ||||
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(HPO:0003554) | Type 2 muscle fiber atrophy | 14 / 7739 | ||||
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(HPO:0003403) | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 7 / 7739 | ||||
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(HPO:0003690) | Limb muscle weakness | 41 / 7739 | ||||
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(HPO:0001290) | Generalized hypotonia | 51 / 7739 | ||||
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(HPO:0001283) | Bulbar palsy | 31 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | EMG shows decremental response of compound muscle action potential (CMAP) to repetitive nerve stimulation | 2 / 7739 | ||||
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(OMIM) | Slow recovery (10-15 minutes) | 2 / 7739 | ||||
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(OMIM) | Sudden episodic apnea, severe, may cause death | 2 / 7739 | ||||
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(OMIM) | Mild-moderate fatigable weakness of limb muscles | 2 / 7739 | ||||
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(OMIM) | Arthrogryposis multiplex in severe cases | 4 / 7739 | ||||
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(OMIM) | Muscle biopsy shows type 2 fiber atrophy | 6 / 7739 | ||||
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(HPO:0003577) | Congenital onset | 133 / 7739 | ||||
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(OMIM) | Absence of acetylcholine receptor (AChR) autoantibodies | 8 / 7739 | ||||
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(OMIM) | Poor feeding due to muscle weakness | 5 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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