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13 Possible Causes for Creatine Phosphokinase Increased, Hip Dislocation, 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] dislocation and a type of curvature of the spine known as ’kyphoscoliosis’.[santhera.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] He had diffuse muscular hypertrophy and stiffness with eyelid myotonia, tongue myotonia, percussion myotonia at thenar eminence [Figure 2] and forearm muscles.[amhsjournal.org]

  • Sarcotubular Myopathy

    There was no actionor percussion myotonia, or muscle rippling. The tendonreflexes and sensory examination were normal.[documents.tips] […] of the hips, arthrogryposis 14.[slideshare.net] PHOSPHOKINASE INCREASED Abnormality of the musculature ... ...[familydiagnosis.com]

  • Upper Limb Hypertrophy

    No percussion myotonia or involuntary movements were noted. Sensory examination was normal and tendon reflexes were elicited normally and symmetric.[amhsjournal.org] dislocation scoliosis May show a combination of any of the above mentioned clinical features.[radiopaedia.org] Laboratory tests, including sedimentation rate and creatine phosphokinase revealed no abnormalities.[karger.com]

  • Oculopharyngodistal 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] Skeletal abnormalities include congenital hip dislocation, scoliosis, and pes cavus; clubbed feet also occur.[clinicalgate.com] phosphokinase Dysarthria Rare Symptoms - Less than 30% cases Increased serum lactate Slow progression Proximal muscle weakness Mitochondrial myopathy Gowers sign Myalgia[mendelian.co]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1D

    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] A blood test reveals an increase in the level of an enzyme known as creatine phosphokinase (CPK).[geneticsofpregnancy.com] In some cases, congenital dislocation of the hip, muscles spasms of the neck (torticollis), or lower bone density may develop.[rarediseases.org]

  • Classic Multiminicore Myopathy

    […] nigricans Hypertriglyceridemia Atrial fibrillation Macrocephaly Accelerated skeletal maturation Recurrent bacterial infections Insulin resistance Epidermal acanthosis Hirsutism Percussion[mendelian.co] […] of the hips, arthrogryposis 14.[slideshare.net] Pros and cons of surgery for hip dislocation or joint contractures need to be considered given that any functional benefit may be insignificant compared to the high risk of[ncbi.nlm.nih.gov]

  • Congenital Muscular Dystrophy Type 1D

    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] dislocation and a type of curvature of the spine known as ’kyphoscoliosis’.[santhera.com] […] of creatine phosphokinase (CK), myoglobinuria and occasional muscle cramps.[news-medical.net]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1B

    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] A blood test reveals an increase in the level of an enzyme known as creatine phosphokinase (CPK).[geneticsofpregnancy.com] In some cases, congenital dislocation of the hip, muscles spasms of the neck (torticollis), or lower bone density may develop.[rarediseases.org]

  • Spondylo-Ocular Syndrome

    myotonia Frontal balding Preauricular pit Accelerated skeletal maturation Facial hypotonia Testicular atrophy Decreased body weight Low posterior hairline Webbed neck Atrial[mendelian.co] ( radial head dislocation, hip dislocation), short stature, congenital heart disease, elbow deformities, clubfoot, tapered fingers with spatulate distal phalanges, and a[rrnursingschool.biz] These include sever generalized joing hypermobility and bilateral hip dislocation present at birth.[medical-dictionary.thefreedictionary.com]

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