Spinal muscular atrophy lower extremity dominant (SMALED)

Evidence-based neurology checklist on spinal muscular atrophy lower extremity dominant (smaled): SMALED 1 This is caused by mutations in the DYNC1H1 gene on chromosome 14q It may also be caused by mutations on chromosome 22 The transmission is autosomal dominant It presents with early childhood…

SMALED 1

  • This is caused by mutations in the DYNC1H1 gene on chromosome 14q
  • It may also be caused by mutations on chromosome 22
  • The transmission is autosomal dominant
  • It presents with early childhood proximal lower limb weakness
  • There is associated muscle atrophy
  • The gait is waddling
  • There are foot deformities and generalised arthrogryposis

SMALED 2

References

  1. Harms MB, Ori-McKenney KM, Scoto M, et al. Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology 2012; 78:1714–1720.
  2. Penttilä S, Jokela M, Hackman P, Maija Saukkonen A, Toivanen J, Udd B. Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2. Eur J Hum Genet 2012; 20:1193-1196.
  3. Beecroft SJ, McLean CA, Delatycki MB, et al. Expanding the phenotypic spectrum associated with mutations of DYNC1H1. Neuromuscul Disord 2017; 27:607-615.
  4. Scoto M, Rossor AM, Harms MB, et al. Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy. Neurology 2015; 84:668-679. 
  5. Oates EC, Rossor AM, Hafezparast M, et al. Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am J Hum Genet 2013; 92:965-973. 
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