Movement Disorder Due to Action Myoclonus Renal Failure Syndrome (AMRFS)
A 22 year old women presented with a bilateral jerky tremor, stimulus-sensitive myoclonus, difficulty with tandem gait, and rapidly progressive renal failure with nephrotic-range proteinuria. Renal biopsy demonstrated focal segmental glomerulosclerosis (FSGS). Genetic testing for causes of FSGS revealed pathogenic variants in the SCARB2 gene, strongly supporting the diagnosis of AMRFS, also known as myoclonic nephropathy or progressive myoclonic epilepsy (PME) type 4. The patient experienced progressive renal failure and underwent renal transplant; this video shows the patient's tremor, myoclonus, dysmetria (past-pointing), and unsteady tandem gait 2 months after transplant. For full case details see http://ja.ma/29fGpJz, and for video documentation of her tremors before renal transplant, see https://youtu.be/SM83El1FyLc
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