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Late adult-onset spinal muscular atrophy with lower extremity predominance (SMALED)
  1. Iqra Aziz1,
  2. Mark Davis2 and
  3. Christina Liang3,4
  1. 1Royal North Shore Hospital, St Leonards, New South Wales, Australia
  2. 2Diagnostic Genomics, PathWest Laboratory Medicine Western Australia, Nedlands, Western Australia, Australia
  3. 3Department of Neurology, Royal North Shore Hospital, St Leonards, New South Wales, Australia
  4. 4Northern Clinical School, University of Sydney, Sydney, New South Wales, Australia
  1. Correspondence to Dr Christina Liang; clia1784{at}uni.sydney.edu.au

Abstract

An elderly man in his early 80s presented with a 6-month history of worsening lower limb weakness on a background of a longer-standing waddling gait. Examination revealed bilateral scapular winging, and weakness in his proximal and distal lower limbs. Electromyography showed widespread chronic partial denervation changes, while sensory and motor nerve conduction parameters were preserved. After little progression over the course of 18 months, motor neuron disease was deemed less likely. Genetic testing revealed BICD2-related spinal muscular atrophy with lower extremity dominance (SMALED2), a disease that is usually of earlier onset. He is the oldest patient in the literature to be diagnosed with SMALED2 while maintaining ambulation, suggesting the milder spectrum of BICD2-related disease.

  • Neuromuscular disease
  • Peripheral nerve disease
  • Neuro genetics

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Footnotes

  • Contributors The report was written by IA and CL. The genetic finding and reporting was supervised by MD. The patient was under the care of CL.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.