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1,594 Possible Causes for Increased Serum Creatine Phosphate, Mild Cognitive Impairment, Percussion Myotonia

  • 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] cognitive impairment LGMD2B DYSF / Dysferlin Young adulthood Very high Slow Asymmetric weakness; preference for biceps with spared deltoid; Absent or reduced dysferlin staining[now.aapmr.org] Additional features can include cramps, calf hypertrophy, rhabdomyolysis, mild cognitive impairment, epilepsy, and cardiac conduction defects.[emedicine.medscape.com]

  • Limb-Girdle Muscular Dystrophy Type 1H

    myotonia Skeletal muscle fibrosis Abnormality of the musculature Anemia Splenomegaly Cardiomyopathy Behavioral abnormality Depressivity Hepatosplenomegaly X-linked inheritance[mendelian.co] cognitive impairment LGMD2B DYSF / Dysferlin Young adulthood Very high Slow Asymmetric weakness; preference for biceps with spared deltoid; Absent or reduced dysferlin staining[now.aapmr.org] […] retinopathy Mask-like facies Neck muscle weakness Progressive ptosis Pes cavus Dyspnea Ranula Spinal canal stenosis Loss of ability to walk Abnormality of muscle fibers Percussion[mendelian.co]

  • Emery-Dreifuss Muscular Dystrophy Type 1

    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] DMD patients have also cognitive impairment and behavioral abnormalities. Dystrophin is present in cortical neurons and Purkinje cells.[neuropathology-web.org] Even if asymptomatic, they often show mild elevation of CK and subtle changes in the muscle biopsy.[neuropathology-web.org]

  • 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] Cognitive impairment that range from intellectual disability to mild cognitive delay, structural eye and brain abnormalities, and seizures are almost exclusively found in[news-medical.net] Cognitive impairment ranging from intellectual disability to mild cognitive delay, structural brain and/or eye abnormalities, and seizures are found almost exclusively in[ncbi.nlm.nih.gov]

  • Myotonic Dystrophy

    Percussion myotonia or myotonia of grasp or both is usually present if looked for.[pediatrics.aappublications.org] Specifically, the regional distribution and neuropsychologic correlates of NFTs and amyloid plaques in cognitively normal elderly subjects and in persons with mild cognitive[doi.org] In addition to muscle problems, issues with respiratory function, heart abnormalities, cataracts, cognitive impairment and personality abnormalities are often seen.[web.archive.org]

    Missing: Increased Serum Creatine Phosphate
  • Duchenne Muscular Dystrophy

    cognitive impairment BMD X-linked recessive (Xp21) Prevalence 1/30 000 Teenage years Similar distribution of muscle wasting as in DMD, but more benign course 50%–70% eventually[doi.org] 10, then once a year Respiratory failure and death in second to third decade of life Ventricular arrhythmias Girls: when asymptomatic, ECG TTE every 5 years after age 16 Mild[doi.org]

    Missing: Percussion Myotonia
  • Becker Muscular Dystrophy

    Similar functional ischemia may be present in brains of patients with BMD, who often have mild cognitive impairment, and nNOS may be important for the regulation of the microvascular[ncbi.nlm.nih.gov] cognitive impairment BMD X-linked recessive (Xp21) Prevalence 1/30 000 Teenage years Similar distribution of muscle wasting as in DMD, but more benign course 50%–70% eventually[doi.org] […] end of the spectrujm includes men with onset of symptoms after age 30 years who remain ambulatory even into their 60s Cognitive impairment is not as common or as sever as[en.wikibooks.org]

    Missing: Percussion Myotonia
  • 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] cognitive impairments 17 ; more severe intellectual disability is more common with younger onset of clinical disease.[now.aapmr.org] 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: Increased Serum Creatine Phosphate
  • Generalized Myotonia of Thomsen

    On examination he showed percussion myotonia. There was no grip myotonia or eyelid myotonia. Nerve conduction studies were normal.[jnnp.bmj.com] Spasticity, dystonia, tremor and migraine were variably present; cognitive impairment was severe in early childhood cases, but was absent in adults.[jnnp.bmj.com] Secondary outcomes: (1) clinical relaxation time; (2) electromyographic relaxation time; (3) stair test; (4) presence of percussion myotonia; and (5) adverse events.[cochrane.org]

    Missing: Increased Serum Creatine Phosphate
  • Danon Disease

    Most males with the disease have learning problems or mild cognitive impairment.[ldnz.org.nz] Symptoms Characteristic symptoms of Danon disease are a combination of heart failure and muscular weakness, frequently accompanied in males by mild cognitive impairment or[ldnz.org.nz]

    Missing: Percussion Myotonia

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