Dystonia work-up
Screening tests
Serum
electrolytes, calcium/phosphorus, uric acid, lactate and pyruvate, liver and thyroid
function tests
Ferritin and transferrin saturation (hereditary hemochromatosis)
CK
(neuroacanthocytosis)
Serum
ceruloplasmin and copper, 24h urinary copper, slit lamp, liver biopsy (WD)
CBC, fresh blood smear, ESR
RPR,
TPHA
EEG, NCVs
Brain
MRI (HD, HSD)
Levodopa trial (DRD)
Specific investigations
Blood/serum
ANA,
LE cels, anticardiolipin, antiphospholipid antibodies
Immunoglobulins,
CEA
14-3-3
protein (CJD) (stable at room temperature and can be sent by regular mail)
Lysosomal enzymes, urine organic acids and amino acids, urine oligosaccharides and mucopolysaccharides (metabolic dystonia)
CSF
Lactate and pyruvate (mitochondrial disease), oligoclonal bands (MS)
Neurophysiology
NCVs, EEG, EP, ERG (metabolic dystonia)
Cell cultures
Leucocytes
Biopsy
Skin and rectum (storage diseases),
Bone marrow (NPC) or muscle (LHON),
Liver biopsy (WD)
Genetic
testing
Trinucleotide repeats
for HD, DYT, DRPLA, SCA 1,2,3
Parkin, a-synuclein
gene abnormalities
Mitochondrial
mutation analysis