Myotonic disorders

Beschreibung

paeds-neurology Mindmap am Myotonic disorders, erstellt von v.djabatey am 12/01/2014.
v.djabatey
Mindmap von v.djabatey, aktualisiert more than 1 year ago
v.djabatey
Erstellt von v.djabatey vor mehr als 10 Jahre
50
0

Zusammenfassung der Ressource

Myotonic disorders
  1. myotonia= delayed relaxation after sustained mm contraction
    1. IDed clinically and on EMG
    2. dystrophia myotonica
      1. dominantly inherited
        1. caused by nucleotide triplet expansion
          1. so there can be anticipation through the generations
            1. esp when maternally transmitted
          2. presentation
            1. newborns
              1. hypotonia
                1. resp & feeding difficulties
                  1. due to mm weakness
                  2. good to examine mum for myotonia
                    1. manifestation
                      1. slow release of handshake
                        1. difficulty releasing tightly clasped fist
                    2. older kids
                      1. myopathic facies
                        1. LD
                          1. myotonia
                        2. diagnosis
                          1. imp to be sensitive while giving diag in the neonate
                          2. adults
                            1. cataracts
                              1. males
                                1. baldness
                                  1. testicular atrophy
                                2. death usually due to cardiomyopathy
                                Zusammenfassung anzeigen Zusammenfassung ausblenden

                                ähnlicher Inhalt

                                Classification of headache disorders
                                v.djabatey
                                Primary headaches
                                v.djabatey
                                Secondary headaches- raised ICP & space-occupying lesions
                                v.djabatey
                                Epilepsies of childhood
                                v.djabatey
                                Epilepsies of childhood-pt2
                                v.djabatey
                                Peripheral motor disorders- neuromuscular disorders
                                v.djabatey
                                Peripheral neuropathies
                                v.djabatey
                                The inflammatory myopathies
                                v.djabatey
                                Ataxia
                                v.djabatey
                                Muscle disorders- the muscular dystrophies
                                v.djabatey
                                neurocutaneous syndromes
                                v.djabatey