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48 Possible Causes for Cataract, Mild Cognitive Impairment, Percussion Myotonia

  • Myotonic Dystrophy

    Percussion myotonia or myotonia of grasp or both is usually present if looked for.[pediatrics.aappublications.org] We report a family with hereditary cataract, which was initially classified as primary hereditary cataract.[ncbi.nlm.nih.gov] 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]

  • 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] Clinical Characteristics Ocular Features: Cataracts have been diagnosed by 6 months of age and may be congenital in origin. Several patients have had strabismus.[disorders.eyes.arizona.edu] 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]

  • 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] Chain220 Atypical Pantothenate Kinase-associated Neurodegeneration Chain262 Benign Hereditary Chorea Chain263 Berardinelli-Seip lipodystrophy Chain269 Bethlem Myopathy Chain313 Cataract[sequencing.com] cognitive impairments 17 ; more severe intellectual disability is more common with younger onset of clinical disease.[now.aapmr.org]

  • 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] Myotonic muscular dystrophy is a multisystem disorder; sufferers often develop cataracts at an early age, and heart problems and cognitive degeneration may also be present[britannica.com]

  • 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] Myotonic MD is the disorder's most common adult form and is typified by prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances.[ninds.nih.gov]

  • 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] […] classically posterior subcapsular cataracts Electrocardiogram critical in the evaluation of cardiac conduction defects Making the diagnosis based on clinical presentation[medbullets.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]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    myotonia Weak voice Protrusio acetabuli Abnormally ossified vertebrae Distichiasis Constrictive median neuropathy Mitochondrial myopathy Coronal cleft vertebrae Abnormality[mendelian.co] Mental retardation cataracts calcified pinnae myopathy[?] Mental retardation coloboma slimness[?] Mental retardation contractural arachnodactyly[?][encyclopedia.kids.net.au] cognitive impairment Miller Fisher syndrome Miller–Dieker syndrome Milner–Khallouf–Gibson syndrome MILS syndrome Minamata disease Minkowski–Chauffard syndrome Minoxidil antenatal[en.wikipedia.org]

  • 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 always follows muscle activation (action myotonia), usually voluntary, but may be elicited by mechanical stimulation (percussion myotonia) of the muscle.[clinicalgate.com]

  • 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] Ocular abnormalities associated MEB disease include increased pressure within the eyes (infantile glaucoma), clouding of the lenses of the eyes (cataracts), rapid, involuntary[rarediseases.org]

  • 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] 2 Cataract 22 2 Cataract 23 3 Cataract 3 2 Cataract 30 1 Cataract 31 1 Cataract 33 2 Cataract 36 1 Cataract 38 2 Cataract 39 2 Cataract 4 1 Cataract 41 1 Cataract 47 1 Cataract[preventiongenetics.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]

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