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Acetazolamide-responsive myotonia

1 OMIM reference -
1 associated gene
13 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 12

Myotonia fluctuans

1 OMIM reference -
1 associated gene
19 signs/symptoms

Acetazolamide-responsive myotonia

Myotonia fluctuans

SCN4A

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	SCN4A

Citations in the biomedical literature:

Acetazolamide-responsive myotonia		Myotonia fluctuans
	Synonym(s): - ACZ-responsive congenital myotonia - ACZ-responsive myotonia - Acetazolamide-responsive congenital myotonia - Myotonia - painful contractions - Painful congenital myotonia - Painful myotonia		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 - 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

Acetazolamide-responsive myotonia		Myotonia fluctuans
	Occasional - Hypothyroidy		Occasional - Dystonia / torticollis / writer's cramp / blepharospasms - Hyperkalemia - Muscle weakness / flaccidity - Muscular edema - Myopathy - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Respiratory distress / dyspnea / respiratory failure / lung volume reduction