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27 Possible Causes for Congenital Eye Anomaly, Difficulty Climbing Stairs, 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] Diffuse inter-episode weakness, mainly in the proximal muscles, invariably developed around the fourth to fifth decade and was slowly progressive, with difficulty in climbing[doi.org] 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]

  • 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] The myotonia is relatively mild and may be manifest as difficulty in releasing objects or by difficulty walking or climbing stairs.[ebrary.net] He had diffuse muscular hypertrophy and stiffness with eyelid myotonia, tongue myotonia, percussion myotonia at thenar eminence [Figure 2] and forearm muscles.[amhsjournal.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] LGMD1 patients may need to use walking aids, can have difficulties climbing stairs and lose the ability to walk.[mdfgauteng.org] […] with brain and eye anomalies), type A, 8 AR 6 9 POMT1 Muscular dystrophy-dystroglycanopathy AR 47 96 SELENON Muscular dystrophy, rigid spine, Myopathy, congenital, with fiber[blueprintgenetics.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] climbing stairs or getting up from chairs.[sharecare.com] […] 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]

  • Sarcotubular Myopathy

    There was no actionor percussion myotonia, or muscle rippling. The tendonreflexes and sensory examination were normal.[documents.tips] Patients may complain of difficulty climbing stairs or fixing their hair in the morning.[hickoryneurology.net] […] myopathy Bethlem myopathy Cap myopathy Central core disease Congenital anomaly of skeletal muscle Congenital articular rigidity with myopathy Congenital disorders of eye[icdlist.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] climbing stairs and walking.[rarediseases.org] […] 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]

  • Distal Myopathy Type 3

    "Action" or grip myotonia may be seen. However, percussion myotonia is rare. There may be an associated neuropathy.[neuroweb.us] Eventually, affected individuals may have difficulty climbing stairs or walking for an extended period of time.[ghr.nlm.nih.gov] […] chamber malformation, Peter anomaly, and congenital cataract) and floppiness. [2] Cardiomyopathy can also develop in these patients.[explainmedicine.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] Shortly afterward he began to walk on tiptoe, difficulty climbing stairs, running and jumping.[pepsic.bvsalud.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]

  • Polyglucosan Body Myopathy Type 2

    "Action" or grip myotonia may be seen. However, percussion myotonia is rare. There may be an associated neuropathy.[neuroweb.us] Pelvic girdle Difficulty climbing stairs, waddling gait, difficulty rising to standing position from a squatting position (patient may demonstrate Gower sign), difficulty[sites.google.com] (congenital with brain and eye anomalies), type A, 5, 613153 LARGE Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 ISPD[gsdseq.ir]

  • Fingerprint Body Myopathy

    It always follows muscle activation (action myotonia), usually voluntary, but may be elicited by mechanical stimulation (percussion myotonia) of the muscle.[basicmedicalkey.com] Patients may complain of difficulty climbing stairs or fixing their hair in the morning.[hickoryneurology.net] […] brain and eye anomalies Congenital muscular dystrophy Congenital muscular dystrophy due to LMNA mutation Congenital muscular dystrophy due to dystroglycanopathy Congenital[se-atlas.de]

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