{
  "abstract": "Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that cause progressive nerve damage. Patients often experience symmetric, slowly progressive distal motor neuropathy presenting in the first to third decade of life. Sensory loss is often mild to moderate. They are commonly divided into axonal, demyelinating or intermediate subclasses based on NCS. Conduction block is very rarely described.We present a case of a gentleman developing painful neuropathy symptoms in his 50’s over a two year period, without family history or identifiable trigger. His initial workup excluded common secondary causes. His NCS demonstrated a length dependent, slightly asymmetric, mixed axonal and demyelinating neuropathy, with borderline conduction block. His CSF was normal. His clinicians treated for possible CIDP with IVIG without clinical change. Over the following 20 years his symptoms remained static without progression. His contemporary clinical exam demonstrated diminished/absent upper limb reflexes with otherwise normal other modalities. His lower limbs demonstrated absent reflexes with polymodal sensory alteration below the malleoli. His repeat NCS demonstrated a length-dependent sensorimotor neuropathy with mixed axonal and demyelinating features, including multifocal conduction block.Genetic testing was undertaken and confirmed CMT1C from a heterozygous missense variant in exon 3 of the LITAF gene, c. 331G>A p.(Ala111Thr). This is a rare subtype of CMT, affecting less than 1% of all CMT sufferers.This case highlights an atypical clinical and electrophysiological phenotype of CMT.",
  "authors": [
    {
      "affiliations": [
        "Sunshine Coast University Hospital, Caloundra, QLD, Australia"
      ],
      "name": "Maaz Khalil"
    },
    {
      "affiliations": [
        "Sunshine Coast University Hospital, Caloundra, QLD, Australia",
        "Griffith University, Sunshine Coast, QLD, Australia"
      ],
      "name": "Antony Winkel"
    },
    {
      "affiliations": [
        "Sunshine Coast University Hospital, Caloundra, QLD, Australia",
        "Griffith University, Sunshine Coast, QLD, Australia"
      ],
      "name": "Andrew Clarke"
    }
  ],
  "title": "3682 Expanding the late onset and conduction-block phenotype in CMT",
  "uid": "c2a4fe5c-c5ab-55a8-911c-7148f8ce7e99"
}