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Myotonia permanens
1 OMIM reference -
1 associated gene
10 connected diseases
26 signs/symptoms
Disease Type of connection
Acetazolamide-responsive myotonia
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis
Myotonia fluctuans
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):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
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
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Hypertonia / spasticity / rigidity / stiffness
- Myotonia

Frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase

Occasional
- Abnormal cry / voice / phonation disorder / nasal speech
- Abnormal gait
- Anomalies of nose and olfaction
- Asthma / bronchospasm
- Epicanthic folds
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long philtrum
- Lordosis
- Micrognathia / retrognathia / micrognathism / retrognathism
- Muscle hypertrophy
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Myalgia / muscular pain
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Restricted joint mobility / joint stiffness / ankylosis
- Short neck
- Short stature / dwarfism / nanism
- Thoracic / chest pain