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Hyperkalemic periodic paralysis
1 OMIM reference -
1 associated gene
10 connected diseases
30 signs/symptoms
Disease Type of connection
Acetazolamide-responsive myotonia
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):
- Adynamia episodica hereditaria
- Familial hyperPP
- Familial hyperkalemic periodic paralysis
- Gamstorp disease
- Gamstorp episodic adynamy
- HYPP
- HyperKPP
- HyperPP
- Hyperkalemic PP
- Primary hyperPP
- Primary hyperkalemic periodic paralysis

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 -
2 MeSH references: C535409 / D020513

Gene symbol UniProt reference OMIM reference
SCN4A P35499603967
Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Acute palsy
- Areflexia / hyporeflexia
- Autosomal dominant inheritance
- Muscle weakness / flaccidity

Frequent
- Abnormal gait
- Hyperkalemia
- Myalgia / muscular pain
- Myoclonus / fasciculations
- Myotonia

Occasional
- Cardiac rhythm disorder / arrhythmia
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Death in infancy
- Early death in adulthood
- Encopresis / fecal incontinence
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Heart / cardiac failure
- Hypertonia / spasticity / rigidity / stiffness
- Hypokalemia
- Hyponatremia
- Intestinal transit disorder
- Malignant hyperthermia
- Muscle hypertrophy
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Myopathy
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Thoracic / chest pain