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Acetazolamide-responsive myotonia
1 OMIM reference -
1 associated gene
10 connected diseases
13 signs/symptoms
Disease Type of connection
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis
Myotonia fluctuans
Myotonia permanens
Paramyotonia congenita of Von Eulenburg
Postsynaptic congenital myasthenic syndromes
Catecholaminergic polymorphic ventricular tachycardia
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Romano-Ward syndrome
X-linked non-syndromic intellectual deficit
Synonym(s):
- ACZ-responsive congenital myotonia
- ACZ-responsive myotonia
- Acetazolamide-responsive congenital myotonia
- Myotonia - painful contractions
- Painful congenital myotonia
- Painful myotonia
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous 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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SCN4A P35499603967
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