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34 Possible Causes for Creatine Phosphokinase Increased, Muscle Hypotonia, 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] Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and contractures present at birth.[ncbi.nlm.nih.gov] The diagnosis of muscular dystrophy is based on the results of muscle biopsy, increased creatine phosphokinase (CpK3), electromyography, and genetic testing.[en.wikipedia.org]

  • Myoadenylate Deaminase Deficiency

    "Action" or grip myotonia may be seen. However, percussion myotonia is rare. There may be an associated neuropathy.[neuroweb.us] We report a 6-month-old girl with the association of congenital muscle weakness and hypotonia, muscle deficiency of adenosine monophosphate… CONTINUE READING[semanticscholar.org] phosphokinase, hypoketotic hypoglycemia, and increased lipid in muscle.[rheumaknowledgy.com]

  • 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] Caring for muscle spasticity or spasms Compartment syndrome Contracture deformity Creatine phosphokinase test Electromyography Eyelid twitch Hypotonia Muscle aches Muscle[icdlist.com] Distribution/anatomy Time course Onset/age Myotonia is usually mild, approximately 50% may have percussion myotonia.[rrnursingschool.biz]

  • 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 exam may show: Abnormally curved spine ( scoliosis ) Joint contractures ( clubfoot, clawhand, or others) Low muscle tone ( hypotonia ) Some types of muscular dystrophy[nlm.nih.gov] The diagnosis of muscular dystrophy is based on the results of muscle biopsy, increased creatine phosphokinase (CpK3), electromyography, and genetic testing.[en.wikipedia.org]

  • Secondary Myopathy

    Muscle hypertrophy may be seen Grip and percussion myotonia can be seen Tx : Mexiletene.[sites.google.com] Affected infants have profound muscle weakness and severe hypotonia.[rarediseases.org] 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]

  • Myopathy

    Myotonia can be elicited by percussion, occurs by impaired relaxation of muscle due to repetitive depolarization of the muscle.[doi.org] Here, we describe an early, lethal presentation of decreased fetal movements, hypotonia, muscle weakness, and neonatal respiratory failure requiring ventilator support in[ncbi.nlm.nih.gov] The laboratory evaluation was remarkable for the marked increase in the serum lactate dehydrogenase and creatine phosphokinase levels.[ncbi.nlm.nih.gov]

  • 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] […] stiffness ; Muscle weakness ; Myalgia ; Neonatal hypotonia ; Paradoxical myotonia ; Percussion myotonia ; Phenotypic variability ; Skeletal muscle hypertrophy Associated[mousephenotype.org] Laboratory examinations revealed elevated serum creatine phosphokinase (810 IU/I; normal range 0-150).[ci.nii.ac.jp]

  • Muscular Dystrophy-Dystroglycanopathy Type B6

    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] […] tone (hypotonia) and muscle weakness at birth.[rarediseases.org] […] of creatine phosphokinase (CK), myoglobinuria and occasional muscle cramps.[news-medical.net]

  • 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] In such cases, affected individuals have severe muscle weakness of both the arms and legs, loss of muscle tone (hypotonia), and delays in attaining motor milestones.[rarediseases.org] We present a 19-year-old girl with epilepsy and elevated creatine phosphokinase (CPK) concentration.[ncbi.nlm.nih.gov]

  • Rigid Spine Syndrome

    […] nigricans Hypertriglyceridemia Atrial fibrillation Macrocephaly Accelerated skeletal maturation Recurrent bacterial infections Insulin resistance Epidermal acanthosis Hirsutism Percussion[mendelian.co] Showing of 42 80%-99% of people have these symptoms Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Myopathy Muscle tissue disease 0003198 Neck[rarediseases.info.nih.gov] Both, seen at ages 9- and 10-years, presented with delays in motor development milestones, generalized hypotonia, muscle weakness, which was more at the proximal than at distal[cags.org.ae]

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