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Myotonic Dystrophy

Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.

Year introduced: 2000(1966)

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Tree Number(s): C05.651.534.500.500, C05.651.662.750, C10.574.500.547, C10.668.491.175.500.500, C10.668.491.606.750, C16.320.400.542, C16.320.577.500

MeSH Unique ID: D009223

Entry Terms:

  • Dystrophies, Myotonic
  • Dystrophy, Myotonic
  • Myotonic Dystrophies
  • Dystrophia Myotonica 1
  • Myotonia Atrophica
  • Atrophica, Myotonia
  • Atrophicas, Myotonia
  • Myotonia Atrophicas
  • Steinert's Disease
  • Disease, Steinert's
  • Steinerts Disease
  • Myotonic Dystrophy 1
  • Steinert Disease
  • Disease, Steinert
  • Steinert Myotonic Dystrophy
  • Dystrophy, Steinert Myotonic
  • Myotonic Dystrophy, Steinert
  • Dystrophia Myotonica
  • Dystrophia Myotonicas
  • Myotonica, Dystrophia
  • Myotonicas, Dystrophia
  • Myotonia Dystrophica
  • Dystrophica, Myotonia
  • Dystrophicas, Myotonia
  • Myotonia Dystrophicas
  • Myotonic Dystrophy, Congenital
  • Congenital Myotonic Dystrophy
  • Congenital Myotonic Dystrophies
  • Dystrophies, Congenital Myotonic
  • Dystrophy, Congenital Myotonic
  • Myotonic Dystrophies, Congenital
  • Myotonic Dystrophy 2
  • Ricker Syndrome
  • Syndrome, Ricker
  • PROMM (Proximal Myotonic Myopathy)
  • PROMMs (Proximal Myotonic Myopathy)
  • Proximal Myotonic Myopathy
  • Dystrophia Myotonica 2
  • Dystrophia Myotonica 2s
  • Myotonic Myopathy, Proximal
  • Myopathies, Proximal Myotonic
  • Myopathy, Proximal Myotonic
  • Myotonic Myopathies, Proximal
  • Proximal Myotonic Myopathies

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