Spinal muscular atrophy lower extremity dominant (SMALED)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Spinal muscular atrophy lower extremity dominant (SMALED). This is caused by mutations in the DYNC1H1 gene on chromosome 14q.

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

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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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