Dystonia work-up

 

Screening tests

Serum electrolytes, calcium/phosphorus, uric acid, lactate and pyruvate, liver and thyroid function tests, blood gases

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

 

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