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99 Possible Causes for Percussion Myotonia, Short Stature - Postnatal Onset

  • 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]

  • 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]

    Missing: Short Stature - Postnatal Onset
  • 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] Secondary outcomes: (1) clinical relaxation time; (2) electromyographic relaxation time; (3) stair test; (4) presence of percussion myotonia; and (5) adverse events.[cochrane.org] Proband shows percussion myotonia of the tongue.[indianpediatrics.net]

    Missing: Short Stature - Postnatal Onset
  • Noonan Syndrome

    It is characterized by postnatal-onset short stature, characteristic facial changes, webbed neck, pectus carinatum, or excavatum, congenital heart defects, and bleeding abnormalities[ncbi.nlm.nih.gov] It is characterized by postnatalonset short stature, characteristic facial changes, webbed neck, pectus carinatum, or excavatum, congenital heart defects, and bleeding abnormalities[doi.org]

    Missing: Percussion Myotonia
  • Metabolic Syndrome

    Muscle weakness, Percussion-induced myotonia Other features N/A Terato- zoospermia Short stature, Hypocalcemia, Vitamin D resistance Low bone density for age, distal metaphyseal[ncbi.nlm.nih.gov]

    Missing: Short Stature - Postnatal Onset
  • Myotonia Congenita

    The diagnosis were based upon family history, clinical findings of percussion myotonia, had grip myotania, prominent muscular hypertrophy and confirmed by electromyographic[ncbi.nlm.nih.gov] Distribution/anatomy Time course Onset/age Myotonia is usually mild, approximately 50% may have percussion myotonia.[rrnursingschool.biz] On examination he showed percussion myotonia. There was no grip myotonia or eyelid myotonia. Nerve conduction studies were normal.[jnnp.bmj.com]

    Missing: Short Stature - Postnatal Onset
  • Joint Subluxation

    Saul-Wilson syndrome (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes[ncbi.nlm.nih.gov]

    Missing: Percussion Myotonia
  • Myotonic Dystrophy

    Percussion myotonia or myotonia of grasp or both is usually present if looked for.[pediatrics.aappublications.org] The less common clinical syndromes, which include the two possible cases of myotonic dystrophy, are: (2) almost pure myotonia, symptomatic from early infancy (one case) or[pediatrics.aappublications.org]

    Missing: Short Stature - Postnatal Onset
  • 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] […] typically elicited by percussion of the thenar eminence with a tendon hammer—‘percussion myotonia’.[doi.org] Handgrip myotonia and strength may improve with repeated contractions—‘warm up phenomenon’. 28 The warm up phenomenon can also improve speech production. 29 Myotonia can be[doi.org]

    Missing: Short Stature - Postnatal Onset
  • Bilateral Leg Weakness

    Inflammation of muscles produces irritability of the muscles which is sometimes visible with gentle percussion- Marked contractions of muscles after percussion, myotonia,[pedclerk.bsd.uchicago.edu]

    Missing: Short Stature - Postnatal Onset

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