Asymptomatic HyperCKemia: Detection of an Isolated Carrier of Duchenne Muscular Dystrophy

Tachi, Nobutada; Wakai, Shuji; Yutoh, Yohkoh; Chiba, Shunzo; Miura, Junichi

doi:10.1177/088307389000500419

Cited by 8 publications

(4 citation statements)

References 10 publications

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“…Another important cause of increased CK levels is Duchenne dystrophy (17). Guidelines suggest DNA analysis for Duchenne/Becker mutation in case of women of <3-fold CK elevation to exclude a carrier status (4).…”

Section: Discussionmentioning

confidence: 99%

Asymptomatic hyperCKemia during a two-year monitoring period: A case report and literature overview

Klinis

Symeonidis²,

Karanasios

et al. 2016

Biomedical Reports

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Abstract. High creatine kinase (CK) levels can be associated with many disorders, including neuromuscular, cardiac, metabolic, endocrine and traumatic. Idiopathic hyperCKemia is a diagnostic dilemma for physicians even though its long-term prognosis is usually benign. We report a case of a Caucasian 61-year-old woman who presented as completely asymptomatic to her general practitioner with a serum CK (sCK) level at 6,122 IU/l. A complete diagnostic evaluation, including physical and laboratory examinations, electromyogram and muscle biopsy were negative for any neuromuscular or other disorder. Two years later the patient remains asymptomatic, active and overall healthy but sCK levels remain elevated, ≤6,591 IU/l (>50-fold higher than normal values).

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Section: Discussionmentioning

confidence: 99%

Asymptomatic hyperCKemia during a two-year monitoring period: A case report and literature overview

Klinis

Symeonidis²,

Karanasios

et al. 2016

Biomedical Reports

View full text Add to dashboard Cite

show abstract

“…In 1980, Rowland et al coined the term &dquo;idiopathic hyperCKemia&dquo; to define a condition in which serum creatine kinase levels were consistently elevated but the patients had no clinical, electrophysiologic, or histopathologic evidence of neuromuscular disease.l2 With the inclusion of creatine kinase measurement as part of the routine blood profile, the number of asymptomatic subjects with unexplained elevated serum creatine kinase has increased. [13][14][15][16][17][18][19] In 1998, Afifi revised the criteria for the diagnosis of idiopathic hyperCKemia and stressed the importance of thorough study of the muscle biopsy.2o…”

Section: Discussionmentioning

confidence: 99%

HyperCKemia as the Only Sign of McArdle's Disease in a Child

et al. 2000

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An asymptomatic 13-year-old boy, who never complained of exercise intolerance or myalgia, was found to have markedly elevated serum creatine kinase (CK) levels during a routine check-up. General physical and neurologic examinations were normal. Surprisingly, histochemical and biochemical analysis of muscle showed myophosphorylase deficiency and genetic analysis showed that the patient was homozygous for the most common mutation encountered in McArdle's disease (R49X). This case illustrates the fuzzy correlation between molecular defect and clinical phenotype in patients with McArdle's disease, and suggests that a thorough study of the muscle biopsy is important in patients with idiopathic hyperCKemia for correct diagnosis and careful follow-up.

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“…Only a minority of them have "important weakness" and, when it is present, they are coined "manifesting genetic carriers". Elevated CPK levels occur in up to 70% of carrier women of dystrophin gene 10 . Dystrophin immunohystochemical staining should be included in the routine muscle biopsy study in patients with hyperCKemia to rule out Becker muscular dystrophy in men or dystrophin gene carrier status in women, regardless of family history 5,11 .…”

Section: Discussionmentioning

confidence: 99%