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Asymptomatic elevation of serum creatine kinase leading to the diagnosis of 4q35 facioscapulohumeral muscular dystrophy

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Abstract

Persistent, asymptomatic (hyperCKemia) may be the prelude to, or the sole manifestation of, a neuromuscular disease. However, the clinical spectrum of facioscapulohumeral muscular dystrophy (FSHD) ranges from asymptomatic individuals with minimal clinical signs to patients who are wheelchair-bound. We describe a patient with persistent, asymptomatic hyperCKemia who received the diagnosis of 4q35 FSHD after a thorough stepwise investigation.

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Cited by (9)

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    2012, Neuromuscular Disorders
    Citation Excerpt :

    The extensive use of the molecular analysis as diagnostic test in human hereditary myopathies has led to the identification of an increasing number of atypical phenotypes. This is particularly true for FSHD, in which various clinical features have been found in subjects carrying FSHD-sized D4Z4 alleles, including a facial-sparing form of FSHD (SHD) [42], limb-girdle muscular dystrophy [43], distal myopathy [44], asymmetric brachial weakness [43], chronic progressive external ophthalmoplegia [45], asymptomatic hyperCKemia [46], hypertrophic cardiomyopathy [47], adult-onset distal myopathies with rimmed vacuoles [48], isolated axial myopathy with camptocormia and bent spine syndrome [49,50]. In addition, overlapping FSHD phenotypes in which 4q35 deleted D4Z4 mutation is associated with other pathogenic mutations in other genes, have been reported in cases of patients with mitochondrial myopathy/FSHD [51], Becker dystrophy/FSHD [52], Duchenne dystrophy/FSHD [53,54], Leber’s hereditary optic neuropathy/FSHD [55], suggesting a synergistic effect of those simultaneous mutations in reaching disease threshold and determining overlapping phenotypes.

  • Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

    2012, American Journal of Human Genetics
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    In some rare cases, that could be by becoming homozygous20 and doubling the dose of a dominant factor such as DUX4. In others, it might be by the simultaneous heterozygosity for a different and recessive myopathy, as suggested by many reports in which the FSHD contractions are found in association with a second molecular defect.31–44 This possibility is also consistent with previous reports of expression changes of candidate proteins such as CRYM that were associated with FSHD in some families but that were unchanged when other families were examined.

  • The identification of Landouzy-Dejerine disease: An investigative history

    2011, Neuromuscular Disorders
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    A very atypical non inherited “Japanese” form, with early onset, epilepsy, mental retardation and lingual abnormalities has been reported [28]. Increased creatine–kinase, 2–7 times normal values, is frequently seen and might be the unique marker in asymptomatic patients [29]. Electromyography reveals small action potentials without evidence of denervation [15].

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