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Myotonia permanens
1 OMIM reference -
1 associated gene
26 signs/symptoms
COMMON GENES: 1
Paramyotonia congenita of Von Eulenburg
1 OMIM reference -
1 associated gene
No signs/symptoms info
Myotonia permanens
Paramyotonia congenita of Von Eulenburg

SCN4A
(UniProt - OMIM)
 SCN4A
(UniProt - OMIM)

COMMON
GENES 		SCN4A


Citations in the biomedical literature:


Myotonia permanens
SCN4A
Paramyotonia congenita of Von Eulenburg



Myotonia permanens
Paramyotonia congenita of Von Eulenburg

Synonym(s):
(no synonyms)

Synonym(s):
- Paramyotonia congenita
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: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538616
Myotonia permanens

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


Paramyotonia congenita of Von Eulenburg

(no data available)