Duchenne gene carrier as cause of asymptomatic hyperckemia

Almeida, Diogo; Melo, Aluisio Claudio Mentor Couto; Bittencourt, P. R. M.

doi:10.1590/s0004-282x2008000300032

Cited by 2 publications

(1 citation statement)

References 12 publications

(11 reference statements)

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“…DMD/BMD-carriers are usually asymptomatic but in case of skewed inactivation of the X-chromosome some of them may manifest in the skeletal muscle, in the myocardium, or both. Muscular manifestations of DMD/BMD-carriers include hyper-CKemia, weakness, wasting, muscle cramping, myalgias, rhabdomyolysis, or myositis [6][7][8][9][10]. Cardiac manifestations in DMD/BMD-carriers include dilative cardiomyopathy [11], late enhancement [12,13], or heart failure [9].…”

Section: Contents Lists Available At Sciverse Sciencedirectmentioning

confidence: 99%

Left ventricular hypertrabeculation/non-compaction in a Duchenne/Becker muscular dystrophy carrier with epilepsy

Finsterer

Stöllberger

Wexberg

et al. 2012

International Journal of Cardiology

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Section: Contents Lists Available At Sciverse Sciencedirectmentioning

confidence: 99%

Left ventricular hypertrabeculation/non-compaction in a Duchenne/Becker muscular dystrophy carrier with epilepsy

Finsterer

Stöllberger

Wexberg

et al. 2012

International Journal of Cardiology

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Significance of Asymptomatic Hyper Creatine-Kinase Emia

Finsterer

Scorza

2019

Journal of Clinical Neuromuscular Disease

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Objectives: Whether asymptomatic hyper-CKemia (AHCE) should prompt a thorough work-up for muscle disease or not is controversially discussed. This review aims at summarizing and discussing recent findings concerning the cause, frequency, evolution, and work-up of conditions manifesting as AHCE and normal or abnormal electromyography (EMG) respectively muscle biopsy. Methods: Systematic PubMed search. Results: There are numerous primary (hereditary) and acquired myopathies that manifest with permanent, recurrent, or temporary AHCE with/without myopathic EMG or muscle biopsy. AHCE particularly occurs at onset of these conditions, which include dystrophinopathies, myotilinopathies, calpainopathy, caveolinopathy, dysferlinopathy, central core disease, multicore disease, desminopathy, MD1, MD2, hypoPP, malignant hyperthermia susceptibility, Pompe disease, McArdle disease, myoadenylate deaminase-deficiency, CPT2-deficiency, mitochondrial disorders, or myopathy with tubular aggregates. Most likely, other primary myopathies manifest with AHCE as well, without having been reported. Patients with AHCE should be taken seriously and repeated CK determination must be conducted. If hyper-CKemia is persisting or recurrent, these patients should undergo an EMG and eventually muscle biopsy. If noninformative, genetic work-up by a panel or whole exome sequencing should be initiated, irrespective of the family history. Patients with AHCE should avoid excessive exercise, require sufficient hydration, require counseling with regard to the risk of malignant hyperthermia, and should inform anesthesiologists and surgeons about their condition before elective surgery. Conclusions: Recurrent AHCE should be taken seriously and managed with conventional work-up. If noninformative, genetic work-up should follow irrespective of the family history.

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Duchenne gene carrier as cause of asymptomatic hyperckemia

Cited by 2 publications

References 12 publications

Left ventricular hypertrabeculation/non-compaction in a Duchenne/Becker muscular dystrophy carrier with epilepsy

Left ventricular hypertrabeculation/non-compaction in a Duchenne/Becker muscular dystrophy carrier with epilepsy

Significance of Asymptomatic Hyper Creatine-Kinase Emia

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