ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1

5 OMIM references -
4 associated genes
3 signs/symptoms

Acetazolamide-responsive myotonia

Catecholaminergic polymorphic ventricular tachycardia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SCN4A	(0.7)	CALM1

Citations in the biomedical literature:

Acetazolamide-responsive myotonia		Catecholaminergic polymorphic ventricular tachycardia
	Synonym(s): - ACZ-responsive congenital myotonia - ACZ-responsive myotonia - Acetazolamide-responsive congenital myotonia - Myotonia - painful contractions - Painful congenital myotonia - Painful myotonia		Synonym(s): - Bidirectional tachycardia - Bidirectional tachycardia induced by catecholamine - CPVT - Double tachycardia induced by catecholamines - Malignant paroxysmal ventricular tachycardia - Multifocal ventricular premature beats - Paroxysmal ventricular fibrillation - Syncopal paroxysmal tachycardia - Syncopal tachyarythmia

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare cardiac disease - Rare genetic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the circulatory system -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: childhood Average age of death: any age Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 5 OMIM references - No MeSH references

Acetazolamide-responsive myotonia		Catecholaminergic polymorphic ventricular tachycardia
	Very frequent - Autosomal dominant inheritance - Hypertonia / spasticity / rigidity / stiffness - Myalgia / muscular pain - Myotonia Frequent - Abnormal EMG / electromyogram / electropmyography - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Thoracic / chest pain Occasional - Abnormal gait - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hypothyroidy - Muscle hypertrophy - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy		Very frequent - Cardiac rhythm disorder / arrhythmia Frequent - Dizziness Occasional - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest