Dystonia: non-genetic investigations
Evidence-based neurology checklist on dystonia: non-genetic investigations: Serum biochemical tests Lactate Pyruvate Acylcarnitines Amino acids Homocysteine Copper Ceruloplasmin Manganese Biotinidase Creatine Guanidoacetic acid Vitamin E Uric acid Cholestanol Cerebrospinal fluid (CSF) biochemical…
Serum biochemical tests
- Lactate
- Pyruvate
- Acylcarnitines
- Amino acids
- Homocysteine
- Copper
- Ceruloplasmin
- Manganese
- Biotinidase
- Creatine
- Guanidoacetic acid
- Vitamin E
- Uric acid
- Cholestanol
Cerebrospinal fluid (CSF) biochemical tests
Urine biochemical tests
Diffusion weighted imaging (DWI): indications
Single photon emission tomography (SPECT)
Computerised tomography (CT) head
Potential neurophysiological investigations
Levodopa trial
References
- van Egmond ME, Lugtenberg CHA, Brouwer OF, et al. A post hoc study on gene panel analysis for the diagnosis of dystonia. Mov Disord 2017; 32:569-575.
- Albanese A, Asmus F, Bhatia KP, et al. EFNS guidelines on diagnosis and treatment of primary dystonias. Eur J Neurol 2011; 18:5-18.
- Albanese A, Bhatia K, Bressman SB, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord 2013; 28:863-873.
- van Egmond ME, Kuiper A, Eggink H, et al. Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm. JNNP 2015; 86:774-781.
- di Biase L, Di Santo A, Caminiti ML, Pecoraro PM, Carbone SP, Di Lazzaro V. Dystonia diagnosis: clinical neurophysiology and genetics. J Clin Med 2022; 11:4184.
