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36 Possible Causes for Creatine Phosphokinase Increased, Facial Muscle Weakness, Percussion Myotonia

  • Congenital Muscular Dystrophy

    Myotonia (prolonged muscle contraction) occurs spontaneously or is elicited by voluntary activity or by mild stimulation, such as tapping on a muscle (percussion myotonia)[neuropathology-web.org] The diagnosis of muscular dystrophy is based on the results of muscle biopsy, increased creatine phosphokinase (CpK3), electromyography, and genetic testing.[en.wikipedia.org] Weakness of the facial muscles often leads to a distinctive facial appearance including droopy eyelids ( ptosis ) and an open mouth.[ghr.nlm.nih.gov]

  • Muscular Dystrophy

    Myotonia (prolonged muscle contraction) occurs spontaneously or is elicited by voluntary activity or by mild stimulation, such as tapping on a muscle (percussion myotonia)[neuropathology-web.org] The diagnosis of muscular dystrophy is based on the results of muscle biopsy, increased creatine phosphokinase (CpK3), electromyography, and genetic testing.[en.wikipedia.org] Weakness involving the facial muscles or shoulders is usually the first symptom of this condition.[web.archive.org]

  • Myotonia Congenita

    The diagnosis were based upon family history, clinical findings of percussion myotonia, had grip myotania, prominent muscular hypertrophy and confirmed by electromyographic[ncbi.nlm.nih.gov] Muscle weakness will occur in facial muscles and extremities. This is a unique dual nature of the congenital form of myotonic dystrophy.[myotonicdystrophy.com] Distribution/anatomy Time course Onset/age Myotonia is usually mild, approximately 50% may have percussion myotonia.[rrnursingschool.biz]

  • Myopathy

    Myotonia can be elicited by percussion, occurs by impaired relaxation of muscle due to repetitive depolarization of the muscle.[doi.org] The laboratory evaluation was remarkable for the marked increase in the serum lactate dehydrogenase and creatine phosphokinase levels.[ncbi.nlm.nih.gov] Weakness of the facial muscles is often very obvious.[rarediseases.org]

  • Limb-Girdle Muscular Dystrophy

    Patients with myotonic dystrophy type 1 may present subtle myotonia and it may be necessary to search for tenar muscle percussion myotonia 15.[doi.org] We present a 19-year-old girl with epilepsy and elevated creatine phosphokinase (CPK) concentration.[ncbi.nlm.nih.gov] Facial muscles are less severely involved than in other types of muscular dystrophy and heart muscle involvement is also less common.[wohproject.org]

  • Myoadenylate Deaminase Deficiency

    "Action" or grip myotonia may be seen. However, percussion myotonia is rare. There may be an associated neuropathy.[neuroweb.us] phosphokinase, hypoketotic hypoglycemia, and increased lipid in muscle.[rheumaknowledgy.com] She had slight muscle weakness in her facial and upper extremities, and severe muscle weakness and atrophy in lower extremities more marked in the proximal portions.[ncbi.nlm.nih.gov]

  • Secondary Myopathy

    Muscle hypertrophy may be seen Grip and percussion myotonia can be seen Tx : Mexiletene.[sites.google.com] Cirioni O, Weimer LE, Fragola V, et al.(2013) Sustained Increase of Serum Creatine Phosphokinase Levels and Progressive Muscle Abnormalities Associated with Raltegravir use[hiv.imedpub.com] Most are non-progressive, associated with weakness in other muscle groups, and present in childhood.[neuroophthalmology.ca]

  • Paramyotonia Congenita

    They experience neither grip nor percussion myotonia during warm weather, whereas myotonia is provoked by cold. Her younger son has no symptoms.[ncbi.nlm.nih.gov] Laboratory examinations revealed elevated serum creatine phosphokinase (810 IU/I; normal range 0-150).[ci.nii.ac.jp] Classic PC phenotype is characterised by episodes of cold-induced stiffness, prominently in the facial and upper limb muscles, exacerbated by a sustained muscular activity[jnnp.bmj.com]

  • Myoglobinuria

    "Action" or grip myotonia may be seen. However, percussion myotonia is rare. There may be an associated neuropathy.[neuroweb.us] creatine phosphokinase (CK) in serum and appearance of small amounts of myoglobin in the urine, but without clinical symptoms.[ncbi.nlm.nih.gov] Involvement of the heart, respiratory muscles or tongue. (Facial weakness is not usual.)[patient.info]

  • Oculo-Pharyngo-Distal Myopathy

    myotonia: delayed relaxation following percussion of the thenar eminence Grip myotonia: delayed relaxation of firm handshake Reflexes depressed Gait: high steppage (foot[evidencereviewed.com] phosphokinase Dysarthria Rare Symptoms - Less than 30% cases Increased serum lactate Slow progression Proximal muscle weakness Mitochondrial myopathy Gowers sign Myalgia[mendelian.co] Oculopharyngodistal myopathy is an extremely rare disease characterised by slowly progressive blepharoptosis, facial and bulbar muscle weakness and distal leg myopathy.[ncbi.nlm.nih.gov]

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