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24 Possible Causes for Congenital Eye Anomaly, Percussion Myotonia

  • 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] Also of diagnostic importance are the myotonic reactions inducible at room temperature, such as percussion myotonia, active myotonia and paradoxical myotonia.[ncbi.nlm.nih.gov] Percussion myotonia of the tongue and thenar muscles could be elicited at room temperature. Myotonia was aggravated by cold.[ncbi.nlm.nih.gov]

  • Schwartz-Jampel Syndrome

    Further investigation showed some typical facial features of the syndrome, percussion myotonia and abnormal EMG pattern characterized by continuous muscle activity at rest[ncbi.nlm.nih.gov] He had diffuse muscular hypertrophy and stiffness with eyelid myotonia, tongue myotonia, percussion myotonia at thenar eminence [Figure 2] and forearm muscles.[amhsjournal.org]

  • Sarcotubular Myopathy

    There was no actionor percussion myotonia, or muscle rippling. The tendonreflexes and sensory examination were normal.[documents.tips] […] myopathy Bethlem myopathy Cap myopathy Central core disease Congenital anomaly of skeletal muscle Congenital articular rigidity with myopathy Congenital disorders of eye[icdlist.com] Cong hered musc dystrphy (Approximate Flag) Synonyms Actin accumulation myopathy Autosomal dominant centronuclear myopathy Autosomal recessive centronuclear myopathy Benign congenital[icdlist.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] (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 Endo T.[ghr.nlm.nih.gov] (Congenital With Brain And Eye Anomalies), Type A, 4 Fukuyama Congenital Muscular Dystrophy Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, FKTN-Related MDDGA4 FCMD[ukgtn.nhs.uk]

  • Autosomal Dominant 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] […] with brain and eye anomalies), - MDDGA7 Limb-Girdle, Muscular dystrophy, type 2V - (AR) 1.42 GAA (17q25.2-q25.3) Acid alpha-glucosidase preproprotein * Limb-Girdle, Muscular[195.83.227.65] (Congenital With Brain And Eye Anomalies), Type A, 2 3 Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 3 Muscular dystrophy-dystroglycanopathy[preventiongenetics.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] […] synthase domain containing occasional Early / Late Rapid/ Moderate Possible 6-50X Muscular dystrophydystroglycanopathy (congenital with brain and eye anomalies), type A,[ncbi.nlm.nih.gov] […] brain and eye anomalies (muscle–eye–brain disease or Walker– Warburg syndrome).[ncbi.nlm.nih.gov]

  • Congenital Muscular Dystrophy Type 1D

    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] New Tests Hydrocephalus, Congenital 2 with or without Brain or Eye Anomalies via MPDZ Gene Sequencing with CNV Detection ( #12013 ) Pediatric Cancer Sequencing Panel with[preventiongenetics.com] […] brain disease Synonyms: MEB, Muscle-eye-brain disease, Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 Myofibrillar myopathy Synonyms: Desminopathy[rarediseases.info.nih.gov]

  • Congenital Fiber-Type Disproportion 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] […] myopathy Bethlem myopathy Cap myopathy Central core disease Congenital anomaly of skeletal muscle Congenital articular rigidity with myopathy Congenital disorders of eye[icdlist.com] Cong hered musc dystrphy (Approximate Flag) Synonyms Actin accumulation myopathy Autosomal dominant centronuclear myopathy Autosomal recessive centronuclear myopathy Benign congenital[icdlist.com]

  • Adult-Onset Nemaline 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] […] myopathy Bethlem myopathy Cap myopathy Central core disease Congenital anomaly of skeletal muscle Congenital articular rigidity with myopathy Congenital disorders of eye[icdlist.com] Cong hered musc dystrphy (Approximate Flag) Synonyms Actin accumulation myopathy Autosomal dominant centronuclear myopathy Autosomal recessive centronuclear myopathy Benign congenital[icdlist.com]

  • Spondylo-Ocular Syndrome

    myotonia Frontal balding Preauricular pit Accelerated skeletal maturation Facial hypotonia Testicular atrophy Decreased body weight Low posterior hairline Webbed neck Atrial[mendelian.co] Glaucoma Vitreal anomalies (gel that fills the eye).[en.wikibooks.org] […] abdominal wall Hypertension Nonimmune hydrops fetalis Atherosclerosis Hyperextensible skin Subcapsular cataract Iris hypopigmentation Increased susceptibility to fractures Percussion[mendelian.co]

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