Myotonic disorders

Descripción

paeds-neurology Mapa Mental sobre Myotonic disorders, creado por v.djabatey el 12/01/2014.
v.djabatey
Mapa Mental por v.djabatey, actualizado hace más de 1 año
v.djabatey
Creado por v.djabatey hace más de 10 años
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Resumen del Recurso

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
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