MDS 17 Annual Video Challenge in Sydney Australia

This year's MDS Video Challenge saw 5 experts on the panel pit their wits against rare diagnoses presented by Movement Disorders teams from around the world. The cases were as follows:

Case 1 – Episodic occulogyria – AADC

Case 2 – Dystonia and mineralization of the basal ganglia – NCL

Case 3 – Primary progressive aphasia and extra-pyramidal disorder – CSF1R

Case 4  – Exercise induced ataxia with areflexia – Leukoencephalopathy of brainstem and spinal cord involvement and increased lactate (DARS2 mutation)

Case 5 – Progressive hyperkinetic movement disorder & chorioretinitis – SSPE

Case 6 – Progressive dystonia & cognitive impairment, strong FHx – GSS disease

Case 7 – Myoclonus and dystonia – Klinefelter’s syndrome

Case 8 – Generalised myoclonus (Ramsay Hunt picture) & ataxia – mutations in SCA6 and MRE11 (Ataxia telangiectasia like syndrome)

Case 9 – Progressive pyramidal dysfunction, strong FHx – SPAX1 mutation

Case 10 – Acute alien limb in hypertensive patient – intracerebral haemorrhage

Case 11 – Parkinsonism, dysmorphic facies – 22q11.2 deletion syndrome

Case 12 – Acute haemolysis, movement disorder and X-linked inheritance – phosphoglycerate kinase deficiency