Autosomal dominant late adult spinal muscular atrophy, type Finkel.

  title={Autosomal dominant late adult spinal muscular atrophy, type Finkel.},
  author={Ant{\^o}nio Richieri-Costa and Andr{\'e} Rogatko and R B Levisky and N J Finkel and Oswaldo Frota-Pessoa},
  journal={American journal of medical genetics},
  volume={9 2},
We describe clinical and genetic data from the study of two families with 80 members affected with the autosomal dominant, slowly progressive spinal muscular atrophy of late onset (average 48.8 years), first described by Finkel in 1962. Electromyography and muscle biopsy of a number of patients confirmed the neurogenic nature of the conditions. Unusual findings in this disorder were cramps, spontaneous fits of suffocation, and symptomatic myotonia. Other manifestations are slow loss of muscle… CONTINUE READING


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