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706 Possible Causes for Creatine Phosphokinase Increased, High Pitched Voice, 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] The laboratory investigations displayed an increased level of serum creatine phosphokinase (CK) present since the neonatal period and persisting elevated in all children with[doi.org]

  • 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] Distribution/anatomy Time course Onset/age Myotonia is usually mild, approximately 50% may have percussion myotonia.[rrnursingschool.biz] On examination he showed percussion myotonia. There was no grip myotonia or eyelid myotonia. Nerve conduction studies were normal.[jnnp.bmj.com]

    Missing: High Pitched Voice
  • 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] Associated defects include a high-pitched voice, low hairline, low-set small ears, small testes, high-arched palate, and occasiona pes euinovarus.[whonamedit.com]

  • 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] […] typically elicited by percussion of the thenar eminence with a tendon hammer—‘percussion myotonia’.[doi.org]

    Missing: High Pitched Voice
  • 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] Also of diagnostic importance are the myotonic reactions inducible at room temperature, such as percussion myotonia, active myotonia and paradoxical myotonia.[ncbi.nlm.nih.gov]

    Missing: High Pitched Voice
  • 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] Due to increased CPK, myopathy was suspected and muscle biopsy was performed.[ncbi.nlm.nih.gov]

    Missing: High Pitched Voice
  • 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] Look for other associated signs including myotonia, paramyotonia, and muscle hypertrophy to exclude other non-systemic causes of muscle weakness.[doi.org]

    Missing: High Pitched Voice
  • 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] […] on hands, brachial biceps and deltoids (triggered by percussion), and difficulty in starting gait due to myotonia.[scielo.br]

    Missing: High Pitched Voice
  • Classic Multiminicore Myopathy

    […] nigricans Hypertriglyceridemia Atrial fibrillation Macrocephaly Accelerated skeletal maturation Recurrent bacterial infections Insulin resistance Epidermal acanthosis Hirsutism Percussion[mendelian.co] […] palate Elevated palate Increased palatal height [ more ] 0000218 High pitched voice 0001620 Increased variability in muscle fiber diameter 0003557 Infantile onset Onset in[rarediseases.info.nih.gov] : nasal, high-pitched voice Clinical features from OMIM: 602771 UMLS symptoms related to Rigid Spine Muscular Dystrophy 1: generalized muscle weakness, facial paresis MGI[malacards.org]

  • 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] […] with common exertional activities (e.g. 20x normal at 1 day after marathon) See Creatine Phosphokinase Myoglobin level increased Increased in urine or serum, but has lower[fpnotebook.com]

    Missing: High Pitched Voice

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