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39 Possible Causes for Areflexia, 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] At 44 years of age, the patient presented with baldness, myopathic face, ptosis, areflexia, along with weakness and atrophy of muscles.[doi.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] Difficulty Swallowing 433 Case 69 A Young Woman with Intermittent Weakness and a Positive Family History of Similar Problems 436 Case 70 A Woman with Muscle Weakness and Areflexia[books.google.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] […] muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford type AD/AR 250 564 MEGF10 Myopathy, early-onset, areflexia[blueprintgenetics.com]

  • Congenital Myopathy with Excess of Thin Filaments

    Muscle hypertrophy may be seen Grip and percussion myotonia can be seen Tx : Mexiletene.[sites.google.com] There was neonatal hypotonia, distal more than proximal weakness, excessive fatigue, myalgias, mild to moderate motor impairment with preserve ambulation, and mild cognitive[misc.medscape.com] […] syndrome Cowden syndrome Cylindrical spirals myopathy DPM3-CDG Dejerine-Sottas syndrome Duchenne and Becker muscular dystrophy Duchenne muscular dystrophy Early-onset myopathy-areflexia-respiratory[se-atlas.de]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    myotonia Weak voice Protrusio acetabuli Abnormally ossified vertebrae Distichiasis Constrictive median neuropathy Mitochondrial myopathy Coronal cleft vertebrae Abnormality[mendelian.co] cognitive impairment Miller Fisher syndrome Miller–Dieker syndrome Milner–Khallouf–Gibson syndrome MILS syndrome Minamata disease Minkowski–Chauffard syndrome Minoxidil antenatal[en.wikipedia.org] […] acidosis Stroke EMG abnormality Lumbar hyperlordosis Hearing impairment Hip contracture Cataract Hypertension Abnormality of the genital system Decreased fetal movement Areflexia[mendelian.co]

  • 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] […] with fiber-type disproportion (ACTA1, SEPN1, TPM3) Minicore myopathy, severe classic form (SEPN1) Early-onset myopathy with fatal cardiomyopathy (TTN) Early-onset myopathy, areflexia[meduniwien.ac.at]

  • Autosomal Dominant Centronuclear 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] In rare cases, the mutation can also lead to a condition associated with elements of centronuclear myopathy, polyneuropathy, and mild cognitive impairment.[socialstyrelsen.se] Diseases related with Flexion contracture and Areflexia In the following list you will find some of the most common rare diseases related to Flexion contracture and Areflexia[mendelian.co]

  • 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] […] recessive intermediate c;ri-cmtc;ri-cmt type c Related symptoms: Autosomal recessive inheritance Muscle weakness Skeletal muscle atrophy Elevated serum creatine phosphokinase Areflexia[mendelian.co]

  • 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] X-linked myotubular myopathy may also have weakness in the muscles that control eye movement (ophthalmoplegia), weakness in other muscles of the face, and absent reflexes (areflexia[icdlist.com]

  • Proximal Myopathy with Extrapyramidal Signs

    "Action" or grip myotonia may be seen. However, percussion myotonia is rare. There may be an associated neuropathy.[neuroweb.us] Mild to moderate cognitive decline is a late feature in this disease and the disorder is caused by rinucleotide expansions which is similar to EA2 ataxia, areflexia and ophthalmoplegia[quizlet.com] Developmental delay Organic aciduria Sensorineural hearing loss Leukoencephalopathy Wernicke encephalopathy Primarily appendicular ataxia Ophthalmoplegia (white black patients) Areflexia[neurodiffdx.com]

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