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47 Possible Causes for Limb Weakness, Mild Cognitive Impairment, Percussion Myotonia

  • 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] Patient-reported perceived changes (worse/stable) in balance, walking, lower-limb weakness, stair-climbing and hand weakness were used as criteria.[ncbi.nlm.nih.gov]

  • 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] The symptoms of FSH dystrophy may appear during childhood with severe facial and limb weakness or develop slowly and gradually in adulthood with progressive difficulty closing[kennedykrieger.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] Limb-girdle muscular dystrophies (LGMD) are a group of clinically and genetically heterogeneous diseases characterized by weakness and wasting of the pelvic and shoulder girdle[ncbi.nlm.nih.gov] 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]

  • 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] Abstract: Hyperkalemic periodic paralysis (hyperPP) is characterized by attacks of flaccid limb weakness (which may also include weakness of the muscles of the eyes, throat[strongbridgebio.com]

  • 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] Peter Bauer, Paola Giunti, Jun-Suk Kang, Prof Thomas Klockgether, Sophie Tezenas du Montcel Recessive variants of MuSK are associated with late onset CMS and predominant limb[rd-neuromics.eu] Spasticity, dystonia, tremor and migraine were variably present; cognitive impairment was severe in early childhood cases, but was absent in adults.[jnnp.bmj.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] There is considerable variability in expression, particularly in the degree of limb weakness which often appears by the fifth decade.[disorders.eyes.arizona.edu]

  • 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] LGMD1D is characterized predominantly by limb-girdle weakness and may also show a bulbar symptom in some cases.[ncbi.nlm.nih.gov]

  • Upper Motor Neuron Disease

    Myotonia is a slowness of relaxation of muscles after a voluntary contraction or a contraction provoked by muscle percussion.[dartmouth.edu] weakness Advanced stage: Weakness in the muscles, in particular the limbs, where movement becomes more and more difficult The limb muscles begin to shrink and some develop[newhealthadvisor.com] Although most cases of MND show only mild or no cognitive impairment, up to 15% may present with frank frontotemporal dementia, which is then associated with more rapidly[pn.bmj.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] OMIM : 58 Limb-girdle muscular dystrophy type 1H (LGMD1H) is an autosomal dominant disorder characterized by adult onset of progressive proximal muscle weakness affecting[malacards.org]

  • 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] Here we describe a three generation Swedish family clinically presenting with limb girdle muscular weakness and histological features of a microvacuolar myopathy.[ncbi.nlm.nih.gov]

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