Create issue ticket

545 Possible Causes for Percussion Myotonia, Thickening of the Skull

  • Myotonic Dystrophy

    Percussion myotonia or myotonia of grasp or both is usually present if looked for.[pediatrics.aappublications.org] In contrast to other conditions, in DM1 there are often associated calvarial abnormalities with thickening of the skull due to a generalized hyperostotic potential.[ajnr.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]

  • 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: Thickening of the Skull
  • 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: Thickening of the Skull
  • Lenz-Majewski Syndrome

    myotonia Weak voice Protrusio acetabuli Abnormally ossified vertebrae Flexion contracture of toe Distichiasis Wrist flexion contracture Constrictive median neuropathy Coronal[mendelian.co] […] calvaria Increased thickness of skull cap Thickened skull cap [ more ] 0002684 30%-79% of people have these symptoms Abnormal nasolacrimal system morphology 0000614 Abnormality[rarediseases.info.nih.gov] […] epiphysis Elevated aldolase level Testicular torsion Odontogenic neoplasm Shoulder flexion contracture Pursed lips Prenatal movement abnormality Abnormality of the pharynx Percussion[mendelian.co]

  • Platyspondyly

    myotonia Hypermetropia Testicular torsion Cleft lip Bulbous nose Slender finger Abnormal cardiac septum morphology Deeply set eye Small for gestational age Microtia Small[mendelian.co] .  Fibrous dysplasia- Skull - asymmetrical thickening of the vault with sclerosis at base: multiple rounded areas of radiolucency- Obliteration of the paranasal air sinuses[slideshare.net] […] widening Genu varum Short metacarpal Enlarged joints Rhizomelia Waddling gait Genu valgum Thin vermilion border Protrusio acetabuli Weak voice Hypoplasia of the maxilla Percussion[mendelian.co]

  • Bonnemann-Meinecke-Reich Syndrome

    myotonia Weak voice Protrusio acetabuli Abnormally ossified vertebrae Flexion contracture of toe Distichiasis Wrist flexion contracture Constrictive median neuropathy Coronal[mendelian.co] Epispadias Elbow ankylosis Aplasia/Hypoplasia of the middle phalanges of the hand Hyperconvex fingernails Delayed eruption of permanent teeth Sclerosis of skull base Abnormal[mendelian.co] […] epiphysis Elevated aldolase level Testicular torsion Odontogenic neoplasm Shoulder flexion contracture Pursed lips Prenatal movement abnormality Abnormality of the pharynx Percussion[mendelian.co]

  • 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: Thickening of the Skull
  • Vitamin D Deficiency

    In older infants with rickets, sitting and crawling are delayed, as is fontanelle closure; there is bossing of the skull and costochondral thickening.[merckmanuals.com]

    Missing: Percussion Myotonia
  • 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] Thickening of the calvarium and enlargement of the frontal sinuses are often present on skull x-rays.[intranet.tdmu.edu.ua] Myotonia may precede the weakness by years and can be easily elicited (clinically and on EMG) in the hands and tongue after forceful contraction ( action myotonia ) or percussion[neuroweb.us]

  • Van Buchem Disease

    This disease is characterized most notably by mandibular enlargement and thickening of the skull.[radiopaedia.org] Symptoms - Hyperostosis corticalis generalisata * Thickening of skull bone * Thickening of collar bone * Thickening of jaw bone * Thickening of rib bones * Thickening of main[checkorphan.org] Head computerized tomography (CT) scan revealed thickened calvarium, skull base and mandible in all three children, with narrowed facial nerve canals.[ncbi.nlm.nih.gov]

    Missing: Percussion Myotonia

Further symptoms

Similar symptoms