Hereditary continuous muscle fiber activity

Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.



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Narrow down the case reports



Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(17.5%)		 6703941
 Hereditary continuous muscle fiber activity.
McGuire SA, Tomasovic JJ, Ackerman N Jr.
Arch Neurol. 1984;41(4):395-6.
Rigidity Muscle stiffness
SON
Adult Child, Preschool Females Homo sapiens Male Muscle Rigidity Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 10

HPO ID Term Frequency
HP:0002064 Spastic gait Very frequent (99-80%)
HP:0003236 Elevated serum creatine kinase Very frequent (99-80%)
HP:0003457 EMG abnormality Very frequent (99-80%)
HP:0003803 Type 1 muscle fiber predominance Very frequent (99-80%)
HP:0100022 Abnormality of movement Very frequent (99-80%)
HP:0001251 Ataxia Frequent (79-30%)
HP:0001260 Dysarthria Frequent (79-30%)
HP:0001350 Slurred speech Frequent (79-30%)
HP:0000776 Congenital diaphragmatic hernia Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
KCNA1 potassium voltage-gated channel subfamily A member 1 3736