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23 Possible Causes for Mild Cognitive Impairment, Percussion Myotonia, Pseudohypertrophy of Calf Muscles

  • 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] 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] Pseudohypertrophy of the calf muscles is due to fibrous tissue and fat infiltration. Involvement of the heart consists of usually terminal cardiomyopathy.[icd9data.com]

  • 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] Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.[disorders.eyes.arizona.edu] We report the first known Egyptian patient with FCMD, established by clinical features of generalized weakness, pseudohypertrophy of calf muscles, progressive joint contractures[ncbi.nlm.nih.gov]

  • Sarcotubular Myopathy

    There was no actionor percussion myotonia, or muscle rippling. The tendonreflexes and sensory examination were normal.[documents.tips] Additional features can include cramps, calf hypertrophy, rhabdomyolysis, mild cognitive impairment, epilepsy, and cardiac conduction defects.[emedicine.medscape.com] Abnormality of limbs Calf muscle pseudohypertrophy Quadriceps muscle weakness Abnormality of metabolism/homeostasis CREATINE PHOSPHOKINASE INCREASED Abnormality of the musculature[familydiagnosis.com]

  • 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] License: Public Domain On examination, you may find pseudohypertrophy of gastrocnemius (calf) muscles. Examine the mental state of the child as retardation is common.[lecturio.com]

  • Oculo-Pharyngo-Distal 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] Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.[ncl.ac.uk] It weakens the sarcolemma and leads to muscle necrosis What are the clinical features of Duchenne's MD? 1. Difficulty running, waddling gait 2. Calf Pseudohypertrophy 3.[brainscape.com]

  • 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] Contractures of the elbow, flexors, neck flexors, and calf muscles often occur; muscle pseudohypertrophy and mental retardation do not occur. A cardiomyopathy is common.[medical-dictionary.thefreedictionary.com] Kids with MD often develop enlarged calf muscles (called calf pseudohypertrophy ) as muscle tissue is destroyed and replaced by fat. How Is Muscular Dystrophy Diagnosed?[kidshealth.org]

  • 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] Pseudohypertrophy of the calf muscles is due to fibrous tissue and fat infiltration. Involvement of the heart consists of usually terminal cardiomyopathy.[icd9data.com] 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]

  • Polyglucosan Body Myopathy Type 2

    "Action" or grip myotonia may be seen. However, percussion myotonia is rare. There may be an associated neuropathy.[neuroweb.us] There may be mild cognitive impairment. Alarm bells may sound. Is it ALS? MS? Prostate cancer? Parkinson’s disease? APBD is a leukodystrophy, a disorder of white matter.[blogs.plos.org] pseudohypertrophy.[sites.google.com]

  • Congenital Merosin-Positive Muscular Dystrophy

    The demonstration of grip or percussion myotonia and facial weakness in the mother establishes the diagnosis of myotonic dystrophy.[mrineonatalbrain.com] 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] Muscle biopsy disclosed severe muscular dystrophy.[discovery.ucl.ac.uk]

  • 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] Muscle pseudohypertrophy (calves and tongue): dystroglycanopathies.[ncbi.nlm.nih.gov]

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