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Hyperkalemic periodic paralysis

1 OMIM reference -
1 associated gene
30 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 17

Myotonia fluctuans

1 OMIM reference -
1 associated gene
19 signs/symptoms

Hyperkalemic periodic paralysis

Myotonia fluctuans

SCN4A

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	SCN4A

Citations in the biomedical literature:

Hyperkalemic periodic paralysis		Myotonia fluctuans
	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		Synonym(s): - Exercise-induced delayed-onset myotonia - Fluctuating myotonia

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

	Classification (ICD10): - Diseases of the nervous system -		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		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 - 2 MeSH references: C535409 / D020513		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Abnormal EMG / electromyogram / electropmyography - Abnormal gait - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Autosomal dominant inheritance - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hyperkalemia - Hypertonia / spasticity / rigidity / stiffness - Muscle hypertrophy - Muscle weakness / flaccidity - Myalgia / muscular pain - Myopathy - Myotonia - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Thoracic / chest pain

Hyperkalemic periodic paralysis		Myotonia fluctuans
	Very frequent - Acute palsy - Areflexia / hyporeflexia Frequent - Myoclonus / fasciculations Occasional - Cardiac rhythm disorder / arrhythmia - Death in infancy - Early death in adulthood - Encopresis / fecal incontinence - Heart / cardiac failure - Hypokalemia - Hyponatremia - Intestinal transit disorder - Malignant hyperthermia - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy		Occasional - Dystonia / torticollis / writer's cramp / blepharospasms - Muscular edema