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23 Possible Causes for Cortical Dysplasia, Creatine Phosphokinase Increased, 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] In view of cortical dysplasia with characteristic distribution, cerebellar abnormalities, preserved general configuration of the brain and normal ophthalmologic examination[neurologyindia.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] The ocular malformations include microphthalmia, colobomas, cataracts, glaucoma, corneal opacity, retinal dysplasia, and optic atrophy.[sites.google.com]

  • Myoadenylate Deaminase Deficiency

    "Action" or grip myotonia may be seen. However, percussion myotonia is rare. There may be an associated neuropathy.[neuroweb.us] The ocular malformations include microphthalmia, colobomas, cataracts, glaucoma, corneal opacity, retinal dysplasia, and optic atrophy.[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] The ocular malformations include microphthalmia, colobomas, cataracts, glaucoma, corneal opacity, retinal dysplasia, and optic atrophy.[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]

  • 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] 限局性皮質異形成 Focal cortical dysplasia (FCD) 限局性皮質異形成 1 不要 有 HPS1591 HPS1592 HPS1593 HPS1594 HPS1595 HPS1596 Focal cortical dysplasia (FCD), type 2a 限局性皮質異形成、type 2a 1 不要 有 HPS2442[cell.brc.riken.jp] 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]

  • Sarcotubular Myopathy

    There was no actionor percussion myotonia, or muscle rippling. The tendonreflexes and sensory examination were normal.[documents.tips] . – White-matter changes, most often in periventricular – Structural brain changes include enlargement of the lateral ventricles, focal cortical dysplasia, occipital polymicrogyria[slideshare.net] PHOSPHOKINASE INCREASED Abnormality of the musculature ... ...[familydiagnosis.com]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    The demonstration of grip or percussion myotonia and facial weakness in the mother establishes the diagnosis of myotonic dystrophy.[mrineonatalbrain.com] dysplasia 25799227 NDE1 Lissencephaly with microcephaly (AR), plus deletion a risk factor for generalized epilepsy 21529751 PCDH19 Epilepsy in females with mental retardation[tests.labmed.washington.edu] […] variability in muscle fiber diameter Hypokinesia Intellectual disability, progressive Peripheral neuropathy Elevated serum creatine phosphokinase Proximal muscle weakness[mendelian.co]

  • Distal Myopathy Type 3

    "Action" or grip myotonia may be seen. However, percussion myotonia is rare. There may be an associated neuropathy.[neuroweb.us] The ocular malformations include microphthalmia, colobomas, cataracts, glaucoma, corneal opacity, retinal dysplasia, and optic atrophy.[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]

  • Limb-Girdle Muscular Dystrophy Type 1E

    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] […] epiphysealis hemimelica Dysplasia of head of femur, Meyer type Dysplastic cortical hyperostosis Dyssegmental dysplasia, Rolland-Desbuquois type Dyssegmental dysplasia, Silverman-Handmaker[se-atlas.de] A blood test reveals an increase in the level of an enzyme known as creatine phosphokinase (CPK).[geneticsofpregnancy.com]

  • Rigid Spine Syndrome

    […] nigricans Hypertriglyceridemia Atrial fibrillation Macrocephaly Accelerated skeletal maturation Recurrent bacterial infections Insulin resistance Epidermal acanthosis Hirsutism Percussion[mendelian.co] . – White-matter changes, most often in periventricular – Structural brain changes include enlargement of the lateral ventricles, focal cortical dysplasia, occipital polymicrogyria[slideshare.net] A small number of individuals have structural changes with focal cortical dysplasia that tends to involve the occipital and temporal lobes.[ncbi.nlm.nih.gov]

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