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28 Possible Causes for Gowers Sign, Mild Cognitive Impairment, Percussion Myotonia

  • 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] ’s sign of proximal muscle weakness 1.[radiopaedia.org]

  • 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] Image : “Gower’s sign.” by William Richard Gowers (1845–1915) – Gowers WR. Clinical lecture on pseudohypertrophic muscular paralysis. Lancet 1879;ii,73-5.[lecturio.com]

  • 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] Gowerssign was negative in all 10 of these children. MRI scans of the spine were diagnostic in cases of primary RSS.[ncbi.nlm.nih.gov]

  • 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]

  • 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] Pelvic- will have Gower's Sign What is the initial weakness in Becker's MD? What is the initial weakness in FSH MD? What is the initial weakness in Myotonic MD?[brainscape.com]

  • 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] 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 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] sign Need help with a diagnosis?[mendelian.co]

  • 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] Gowerssign was negative in all 10 of these children. MRI scans of the spine were diagnostic in cases of primary RSS.[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]

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