PURA and Dystonia: Disease-causing variants were found in two patients with SPG (2/5, 40%) in SPAST and SPG11, six patients with have a combination of more than one MDs (6/20, 30%) in GNAO1, SLC2A1, KMT2B, SPG11, ATP1A3 and ACTB. The diagnosis made in two patients with pure dystonia (2/4, 50%) were by open exome analysis, one with PURA and one with CTNNB1 and COL1A1 representing one man two diseases.