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28 Possible Causes for Creatine Phosphokinase Increased, Floppy Muscle, Percussion Myotonia

  • 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] Symptoms include: Myotonia (prolonged muscle spasm) in the fingers and facial muscles A floppy-footed, high-stepping gait (walk or run) Cataracts Heart abnormalities Endocrine[ohsu.edu]

  • 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] […] no symptoms Bethlem myopathy Floppy muscles in infancy 2/3 of patents are wheelchair bound Proximal muscle weakness by age 50 Contractures * Includes alpha, beta, gamma and[encyclopedia.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] Hypotonia : This is defined as weakness and floppiness of the muscles. The infant will demonstrate what is known as low tone.[myotonicdystrophy.com] Distribution/anatomy Time course Onset/age Myotonia is usually mild, approximately 50% may have percussion myotonia.[rrnursingschool.biz]

  • 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] Merosin Positive CMD The term, 'Merosin Positive CMD,' refers to persons who fit a CMD picture with floppy muscle tone and may present with respiratory and feeding difficulty[disabled-world.com]

  • 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] Affected infants may exhibit muscle weakness, hypotonia leading to abnormal “floppiness”, and feeding difficulties.[rarediseases.org]

  • 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] Most newborns have severely reduced muscle tone (hypotonia, or "floppiness") and mild muscle weakness, but sometimes symptoms of core myopathy do not manifest until adulthood[merckmanuals.com]

  • 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] The main episodes lasted up to several hours, but focal weakness in a muscle or group of muscles (for example, “floppy foot”) could persist for days.[doi.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] Hypotonia (poor muscle tone or floppiness) and weakness of arm, leg, trunk, face and throat muscles. In severe cases, children have marked respiratory weakness.[mda.org.au]

  • 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] Failure to thrive, floppy-baby syndrome, and generalized muscle weakness are present in most of these children.[emedicine.medscape.com]

  • Schwartz-Jampel Syndrome

    Further investigation showed some typical facial features of the syndrome, percussion myotonia and abnormal EMG pattern characterized by continuous muscle activity at rest[ncbi.nlm.nih.gov] High serum creatine kinase Increased CPK Increased creatine kinase Increased creatine phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine[rarediseases.info.nih.gov] Weakness 497 Case 79 A Boy Born Floppy with Severe Weakness and Later Contractures 503 Case 80 A Woman with Longstanding Weakness and Foot Deformities 510 Case 81 A Woman[books.google.com]

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