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19 Possible Causes for Mild Cognitive Impairment, Percussion Myotonia, Positive Gower's Sign

  • 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] Boys with DMD demonstrate a positive Gowerssign, a maneuver used by individuals with proximal muscle weakness to rise from a seated position.[natera.com]

  • 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] 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] We report a Saudi Arabian family with weakness in limb-girdle distribution: waddling gait, positive Gowers' sign, and marked muscle atrophy in the shoulder and pelvic girdle[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] Gowers sign.[docslide.com.br]

  • 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] He had a waddling gait, a positive Gowers' sign, and he was barely able to run.[academic.oup.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] Gower’s sign was positive. Winging of scapula was present.[jcdr.net]

  • Rigid Spine Syndrome

    […] nigricans Hypertriglyceridemia Atrial fibrillation Macrocephaly Accelerated skeletal maturation Recurrent bacterial infections Insulin resistance Epidermal acanthosis Hirsutism Percussion[mendelian.co] 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] She had proximal muscle weakness and was positive for Gowerssign. She had difficulty in bending and turning her neck fully.[ncbi.nlm.nih.gov]

  • 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] On clinical examination, there was a myotonic handshake, myopathic facial expression, and a positive Gower’s sign (weakness of the proximal muscles).[jbsr.be]

  • 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] Pelvic girdle Difficulty climbing stairs, waddling gait, difficulty rising to standing position from a squatting position (patient may demonstrate Gower sign), difficulty[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] She had proximal muscle weakness and was positive for Gowerssign. She had difficulty in bending and turning her neck fully.[ncbi.nlm.nih.gov]

  • Batten-Turner Congenital Myopathy

    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] He had a positive Gowerssign and a waddling, high-stepping gait with bilateral foot drop.[nature.com] DMD patients have also cognitive impairment and behavioral abnormalities. Dystrophin is present in cortical neurons and Purkinje cells.[neuropathology-web.org]

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