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Disease Information for Paramyotonia congenita.

Clinical Manifestations
Signs & Symptoms: Myopathic facies/snarling smile
: Muscle spasticity; Myotonia worsens with repeated grip/contraction stress; Myotonic like rigidity of muscles
: Extrapyramidal signs; Intermittant flaccid paralysis
: Episodic symptoms/events; Walking difficulties
Disease Progression: Course/Chronic disorder; Course/Chronic only; Course/Prolonged/persistent/Not progressive
Demographics & Risk Factors
Population Group: Child; Infant; Population/Pediatrics population
Sex & Age Groups: Population/Child; Population/Child-Infant Only; Population/Children/all; Population/Infant
Diagnostic Test Results
Electrodiagnosis: EMG/Myotonic muscle activity
Associated Diseases & Rule outs
Rule Outs: Hyperkalemic periodic paralysis; Hypokalemic periodic paralysis; Myotonia atrophica
Associated Disease & Complications: Congenital eye disease/eye anomalies; Extrapyramidal disease/manifestation; Periodic paralysis syndrome
Disease Synergy - Causes: Synergy/Cold environment
Disease Mechanism & Classification
Class: CLASS/Pediatric disorders (ex)
: CLASS/Muscle disorder (ex); CLASS/Muscle/tendon/extremities (category)
Pathophysiology: Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations); Pathophysiology/Sodium-channel muscle disorder
Process: PROCESS/Autosomal dominant hereditary disease (ex).; PROCESS/Congenital/developmental (category); PROCESS/Hereditofamilial (category); PROCESS/INCIDENCE/Extremely rare disease; PROCESS/Movement disorder (ex)
: PROCESS/Congenital eye disorder (ex)
Synonyms
Synonym: Congenita Paramyotonia, Disease Eulenburg, Disease Eulenburg's, Eulenburg, EULENBURG DIS, EULENBURG DISEASE, Eulenburg syndrome, EULENBURGS DIS, Eulenburgs Disease, Eulenburg's disease, PARAMYOTONIA CONGEN, Paramyotonia congenita, Paramyotonia congenita (disorder), Paramyotonia Congenitas, Von Eulenberg's disease, Synonym/Eulenburg disease, Synonym/Myotonia congenita intermittens, Synonym/Paralysis periodica paramyotonica, Synonym/Paramyotonia congenita of Von Eulenburg, Synonym/Paraomphalocele, Synonym/Von Eulenburg paramyotonia congenita
Definition: Be the first to add a definition for Paramyotonia congenita.
External Links Related to Paramyotonia congenita.: Google; Wikipedia; Merck; Images; PubMed (National Library of Medicine); NGC (National Guideline Clearinghouse); Medscape (eMedicine); Harrison's Online (accessmedicine); NEJM (The New England Journal of Medicine)

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