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Myotonia permanens
1 OMIM reference -
1 associated gene
26 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 12
Acetazolamide-responsive myotonia
1 OMIM reference -
1 associated gene
13 signs/symptoms
Myotonia permanens
Acetazolamide-responsive myotonia

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

COMMON
GENES 		SCN4A


Citations in the biomedical literature:


Myotonia permanens
SCN4A
Acetazolamide-responsive myotonia



Myotonia permanens
Acetazolamide-responsive myotonia

Synonym(s):
(no synonyms)

Synonym(s):
- ACZ-responsive congenital myotonia
- ACZ-responsive myotonia
- Acetazolamide-responsive congenital myotonia
- Myotonia - painful contractions
- Painful congenital myotonia
- Painful 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: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
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 -
No MeSH references
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
- Hypertonia / spasticity / rigidity / stiffness
- Muscle hypertrophy
- Myalgia / muscular pain
- Myotonia
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Thoracic / chest pain

Myotonia permanens
Acetazolamide-responsive myotonia

Occasional
- Abnormal cry / voice / phonation disorder / nasal speech
- Anomalies of nose and olfaction
- Asthma / bronchospasm
- Epicanthic folds
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long philtrum
- Lordosis
- Micrognathia / retrognathia / micrognathism / retrognathism
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Restricted joint mobility / joint stiffness / ankylosis
- Short neck
- Short stature / dwarfism / nanism


Occasional
- Hypothyroidy