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16 Possible Causes for Creatine Phosphokinase Increased, Keloid, 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] Skin changes such as hypertrophic scars or keloid formation Analyses of blood samples typically reveal slightly to markedly elevated levels of creatine kinase, but don't yield[symptoma.com] 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] 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] Patients typically develop follicular hyperkeratosis (keratosis pilaris) over the extensor surfaces of the arms and legs as well as abnormal keloid formation.[sites.google.com]

  • 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] Clinical assessment for abnormal skin, such as the presence of excessive keloid formation, can also be helpful.[healio.com] We present a 19-year-old girl with epilepsy and elevated creatine phosphokinase (CPK) concentration.[ncbi.nlm.nih.gov]

  • Myoadenylate Deaminase Deficiency

    "Action" or grip myotonia may be seen. However, percussion myotonia is rare. There may be an associated neuropathy.[neuroweb.us] Patients typically develop follicular hyperkeratosis (keratosis pilaris) over the extensor surfaces of the arms and legs as well as abnormal keloid formation.[sites.google.com] phosphokinase, hypoketotic hypoglycemia, and increased lipid in muscle.[rheumaknowledgy.com]

  • Myoglobinuria

    "Action" or grip myotonia may be seen. However, percussion myotonia is rare. There may be an associated neuropathy.[neuroweb.us] Patients typically develop follicular hyperkeratosis (keratosis pilaris) over the extensor surfaces of the arms and legs as well as abnormal keloid formation.[sites.google.com] creatine phosphokinase (CK) in serum and appearance of small amounts of myoglobin in the urine, but without clinical symptoms.[ncbi.nlm.nih.gov]

  • Sarcotubular Myopathy

    There was no actionor percussion myotonia, or muscle rippling. The tendonreflexes and sensory examination were normal.[documents.tips] .  Skin changes can include follicular hyperkeratosis, keratosis pilaris, and keloids.  Intelligence and brain MRIs are normal.  Cardiac function is normal. 72.[slideshare.net] PHOSPHOKINASE INCREASED Abnormality of the musculature ... ...[familydiagnosis.com]

  • Distal Myopathy Type 3

    "Action" or grip myotonia may be seen. However, percussion myotonia is rare. There may be an associated neuropathy.[neuroweb.us] Patients typically develop follicular hyperkeratosis (keratosis pilaris) over the extensor surfaces of the arms and legs as well as abnormal keloid formation.[sites.google.com] 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]

  • Rigid Spine Syndrome

    […] nigricans Hypertriglyceridemia Atrial fibrillation Macrocephaly Accelerated skeletal maturation Recurrent bacterial infections Insulin resistance Epidermal acanthosis Hirsutism Percussion[mendelian.co] .  Skin changes can include follicular hyperkeratosis, keratosis pilaris, and keloids.  Intelligence and brain MRIs are normal.  Cardiac function is normal. 72.[slideshare.net] […] dystroglycanopathies Diffuse joint contractures: laminin alpha-2 deficiency, collagen VI-deficient CMD Distal hyperlaxity: collagen VI-deficient CMD Hypertrophic scars or keloid[ncbi.nlm.nih.gov]

  • Bonnemann-Meinecke-Reich Syndrome

    myotonia Weak voice Protrusio acetabuli Abnormally ossified vertebrae Flexion contracture of toe Distichiasis Wrist flexion contracture Constrictive median neuropathy Coronal[mendelian.co] […] kahlen, kaitila, kaler, kallmann, kaloustian, kapoor, kaposiform, karnes, karp, karsch, kashani-strom-utley, katsantoni, kaufman, kawasaki, kawashima, kbg-like, kearns-sayre, keloids[rapsodyonline.eurordis.org] phosphokinase Intellectual disability, severe Arrhythmia Cerebral atrophy Mandibular prognathia Progeroid facial appearance Macrocephaly Hip dysplasia Gait disturbance High[mendelian.co]

  • 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] […] dystroglycanopathies Diffuse joint contractures: laminin alpha-2 deficiency, collagen VI-deficient CMD Distal hyperlaxity: collagen VI-deficient CMD Hypertrophic scars or keloid[ncbi.nlm.nih.gov] […] of creatine phosphokinase (CK), myoglobinuria and occasional muscle cramps.[news-medical.net]

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