About: Spinal muscular atrophy with lower extremity predominance 2B     Goto   Sponge   NotDistinct   Permalink

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Spinal muscular atrophy with lower extremity predominance 2B (SMALED2B) is a rare neuromuscular disorder characterised by generalised muscle weakness.

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  • Spinal muscular atrophy with lower extremity predominance 2B (en)
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  • Spinal muscular atrophy with lower extremity predominance 2B (SMALED2B) is a rare neuromuscular disorder characterised by generalised muscle weakness. (en)
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  • http://commons.wikimedia.org/wiki/Special:FilePath/Autosomal_dominant_-_en.svg
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diagnosis
  • Molecular test (en)
onset
  • Infancy (en)
symptoms
  • Generalised severe hypotonia at birth (en)
caption
  • Spinal muscular atrophy with lower extremity predominance 2B is inherited in an autosomal dominant manner. (en)
causes
  • Mutations in BICD2 gene (en)
duration
  • Lifetime (en)
field
  • Neurology (en)
synonyms
  • Lower extremity-predominant spinal muscular atrophy type 2B, SMALED2B (en)
has abstract
  • Spinal muscular atrophy with lower extremity predominance 2B (SMALED2B) is a rare neuromuscular disorder characterised by generalised muscle weakness. (en)
prognosis
  • Life limiting (en)
medical cause
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