Infancy (first 2 years of life)
- Neonatal Prader - Willi syndrome - hypokinesia and limb dystonia - fluorescent in situ hybridization/multiplex ligation-dependent probe amplification for deletion paternally inherited chromosome 15
- Neonatal hyperekplexia/startle - GLRA1 and GlyT2 mutations
- Disorders of monoamine metabolism - temperature instability, oculogyric crises, lethargy and parkinsonism - plasma amino adds, CSF neurotransmitters pterins
- Although dopa-responsive dystonia usually presents later, this disorder should be considered in any infant with a pure dystonic disorder and oral levodopa trial initiated
- Glutaric acidura type 1 - usually after acute encephalopathy but not always; dystonia and choreoathetosis - urine organic acids
- Mitochondrial disorders - dystonias - MRI, lactates, enzyme activities, genes (e.g. pyruvate dehydrogenase, POLG1)
- Methaemoglobinaemia type 2 - microcephaly, dystonia, mild cyanosis -red cell methaemoglobin, gene NADH - cytochrome b 5 reductase
- Post-herpes encephalitis - ballismus - CSF, herpes simplex virus polymerase chain reaction though likely negative
- Lesch-Nyhan syndrome - choreoathetosis superimposed on gross motor delay (usually followed by self-mutilation) - urine uric acid, hypoxanthine phosphoribosyltransferase 1 assay red cells or cultured fibroblasts.
- Shuddering and benign infantile spasms - tremor-like spasms - video, video-EEG if in doubt
- Infantile masturbation - repeated dystonic adduction of the thighs - video
- Transient dystonia of infancy - episodes of dystonic posturing especially of upper limbs distally - home video
Older Children
| Acute-Onset Movement Disorders | ||
| Condition | Movement disorder(s) | Investigation |
| Drugs (neuroleptic) | Dystonia, oculogyric crises, torticollis | Video |
| Arterial ischaemic stroke | Chorea, dystonia, etc. | Brain MRI, MRA ± catheter cerebral angiography |
| Sydenham chorea | Chorea | ECG, antistreptolysin 0 titre, anti-DNAaseB titre |
| Anti-NMDA receptor encephalitis | Orofacial dyskinesia, and alternating violent limb dyskinesia and akinesia | Anti-NMDA receptor antibodies, CSF oligoclonal bands |
| Immune-mediated chorea encephalopathy | Chorea ± oculogyric crises, rigidity (not clear if different from anti-NMDA receptor encephalitis) | CSF oligoclonal bands |
| Systemic lupus erythematosus | Chorea | Anti-DNA antibodies, etc. (auto-antibody battery), CSFINF-a |
| Glutaric aciduria type 1 | Choreoathetosis, dystonia (usually postencephalopathy) | Brain MRI, urine organic acids |
| Mitochondrial | Dystonia | MRI |
| Pyruvate dehydrogenase deficiency | Dystonia (may be paroxysmal) | MRI (globus pallidus signal change), ± H-MRS, lactates, PDH activity in fibroblasts |
| Rapid-onset dystonia parkinsonism (DYT12) | Upper-limb dystonia, bulbar symptoms (parkinsonism later) | Video. Gene test: ATP1A3 |
| Paroxysmal movement disorders | ||
| Condition | Movement disorder(s) | Investigation |
| Alternating hemiplegia of childhood | Dystonia, ocular deviation and monocular nystagmus, limp attacks, bath-induced in one third | Home video |
| Paroxysmal kinesigenic dyskinesia | Choreoathetosis on sudden voluntary movement, family history | Home video (gene1) |
| Paroxysmal non-kinesigenic dyskinesia | Chorea and dystonia, family history, alcohol and caffeine provocation in family members | Home video (gene1) |
| Paroxysmal exertional dyskinesia | Choreoathetosis during sustained exercise, family history | Family video. Blood film (echinocytes). GLUT1 deficiency (fasting blood and CSF glucose) |
| Infantile convulsions with paroxysmal dyskinesia | Choreoathetosis, kinesigenic or exercise induced, with history of infantile clonic epileptic seizures | Home video (gene2) |
| GLUT1 deficiency | Variable, usually with epilepsy also, meal related | Low fasting CSF/blood glucose ratio; red cell GLUT1 assay; SLC2A1 gene |
| 1 Gene test may be available but not normally indicated. | ||
| 2 Gene localized to centromere of chromosome 16 but not helpful in individual diagnosis | ||
| Chronic or progressive movement disorder | ||
| Type of movement disorder | Condition | Investigation |
| Mixed movement disorder | Wilson disease (onset over age 5 years, usually over 7 years) | Serum copper, copper oxidase, 24h urine copper ± liver copper. Gene mutation |
| Guanidinoacetate methyltransferase deficiency (dystonia, ballismus) | Brain H-MRS ± urine guanidinoacetate | |
| Mitochondrial | Brain MRI, H-MRS | |
| Myoclonus-dystonia (DYT11) | Video. SGCE gene mutation | |
| Rapid-onset dystonia parkinsonsim (DYT12) | Video. ATP1A3 gene mutation | |
| Dystonia-parkinsonism (DYT16), not rapid onset | PRKRA gene mutation | |
| Juvenile parkinsonism | Fluoride-PET. Several genes | |
| Dystonia | Idiopathic torsion dystonia (DYT1) | Gene - Torsin A |
| Dopa-responsive dystonia (DRD=DYT5) | Levodopa trial, GCH1 gene | |
| Chorea | Benign hereditary chorea | TITF-1 gene mutation |
| Hypoparathyroidism | Plasma calcium and phosphorus, ECG for QTc, CT/MRI (calcification of basal ganglia and white matter), better seen on CT | |
| Lesch-Nyhan (choreoathetosis) | Urine uric acid, red-cell hypoxanthine phosphoribosyltransferase | |
| Tremor | Essential tremor | Frequency analysis possible |
| Hyperthyroidism | Thyroid function tests | |
| B12 deficiency (also after treatment) | Blood film, B12 urine organic acids, spinal cord MRI | |
| Myoclonus | Many metabolic and epileptic conditions | Biochemistry, EEG |
| Myoclonus-dystonia (DYT11) - begins with dystonic toddler gait (under age 3y) that may be forgotten, later lightning jerks of upper limbs dominate | Home video including archival footage. SGCE gene mutation | |
| Restless legs syndrome | Night video; levodopa trial has not been evaluated as a diagnostic test in children; polysomnography might add | |
| Tics | Tourette syndrome | No tests (significance of anti-basal ganglia antibodies unclear) |
Movement disorders in individuals with learning disability
Most of the abnormal movements in those with severe learning disability, in particular various kinds of stereotypy, do not help in clinical diagnosis and do not suggest particular neurological investigations. However, sound-startle induced falls that resemble cataplexy or hyperekplexia point to Coffm-Lowry syndrome (investigation: home or clinic video, possible gene analysis see Chapter 3.14), and status dystonicus in a boy with epileptic infantile spasms will prompt ARX mutation analysis (see Chapter 3.15).
In another ARX phenotype boys have focal dystonia with an X-linked inheritance. A prominent movement disorder in a boy with mild facial dysmorphism will prompt estimation of free T3 (triiodothyroxine) and, if elevated, mutation analysis of MCT8 (monocarboxylate transporter 8 gene).
Further reading
Pfeiffer RF (2007) Wilson's Disease.Semin Neurol 27 (2):123-32. DOI: 10.1055/s-2007-971173 PMID:17390257.
Neville BG, Parascandalo R, Farrugia R, Felice A (2005) Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder.Brain 128 (Pt 10):2291-6. DOI: 10.1093/brain/awh603PMID: 16049044.
Pearl PL, Taylor JL, Trzcinski S, Sokohl A (2007) The pediatric neurotransmitter disorders.J Child Neurol22 (5):606-16. DOI: 10.1177/0883073807302619 PMID: 17690069.
Picchietti MA, Picchietti DL (2008) Restless legs syndrome and periodic limb movement disorder in children and adolescents.Semin Pediatr Neurol 15 (2):91-9. DOI: 10.1016/j.spen.2008.03.005 PMID: 18555195.
Pons R, Ford B, Chiriboga CA, Clayton PT, Hinton V, Hyland K et al. (2004) Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis.Neurology 62 (7):1058-65. PMID:15079002.
Roberts EA, Schilsky ML, American Association for Study of Liver Diseases (AASLD) (2008) Diagnosis and treatment of Wilson disease: an update.Hepatology 47 (6):2089-111. DOI: 10.1002/hep.22261 PMID:18506894.
Wolf DS, Singer HS (2008) Pediatric movement disorders: an update.Curr Opin Neurol 21 (4):491-6. DOI: 10.1097/WCO.0b013e328307bf1c PMID: 18607212.
Morrison PJ (2008) Paediatric and adult movement disorders (update 2).Eur J Paediatr Neurol 12 (3):253-6. DOI: 10.1016/j.ejpn.2007.07.009 PMID: 17855134.
McFarland R, Chinnery PF, Blakely EL, Schaefer AM, Morris AA, Foster SM et al. (2007) Homoplasmy, heteroplasmy, and mitochondrial dystonia.Neurology 69 (9):911-6. DOI:10.1212/01.wnl.0000267843.10977.4a PMID: 17724295.
Kullnat MW, Morse RP (2008) Choreoathetosis after herpes simplex encephalitis with basal ganglia involvement on MRI.Pediatrics 121 (4):e1003-7. DOI: 10.1542/peds.2007-0813 PMID: 18378549.
Horvath GA, Stockler-Ipsiroglu SG, Salvarinova-Zivkovic R, Lillquist YP, Connolly M, Hyland K et al. (2008) Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms.Mol Genet Metab 94 (1):127-31. DOI:10.1016/j.ymgme.2008.01.003 PMID: 18276179.
Hartley LM, Ng SY, Dale RC, Church AJ, Martinez A, de Sousa C (2002) Immune mediated chorea encephalopathy syndrome in childhood.Dev Med Child Neurol 44 (4):273-7. PMID: 11995896.
Guerrini R, Moro F, Kato M, Barkovich AJ, Shiihara T, McShane MA et al. (2007) Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.Neurology 69 (5):427-33. DOI:10.1212/01.wnl.0000266594.16202.c1 PMID: 17664401.
Geyer HL, Bressman SB (2006) The diagnosis of dystonia.Lancet Neurol 5 (9):780-90. DOI:10.1016/S1474-4422(06)70547-6 PMID: 16914406.
Friedman J, Hyland K, Blau N, MacCollin M (2006) Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency.Neurology 67 (11):2032-5. DOI:10.1212/01.wnl.0000247274.21261.b4 PMID: 17159114.
Ewenczyk C, Leroux A, Roubergue A, Laugel V, Afenjar A, Saudubray JM et al. (2008) Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum.Brain 131 (Pt 3):760-1. DOI:10.1093/brain/awm337 PMID: 18202104.
Echenne B, Roubertie A, Assmann B, Lutz T, Penzien JM, Thöny B et al. (2006) Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy.Pediatr Neurol 35 (5):308-13. DOI:10.1016/j.pediatrneurol.2006.05.006 PMID: 17074599.
Dressler D, Benecke R (2005) Diagnosis and management of acute movement disorders.J Neurol 252 (11):1299-306. DOI: 10.1007/s00415-005-0006-x PMID: 16208529.
Dalmau J, Gleichman AJ, Hughes EG, Rossi JE, Peng X, Lai M et al. (2008) Anti-NMDA-receptor encephalitis: case series and analysis of the effects of antibodies.Lancet Neurol 7 (12):1091-8. DOI:10.1016/S1474-4422(08)70224-2 PMID: 18851928.
Canavese C, Ciano C, Zorzi G, Zibordi F, Costa C, Nardocci N (2008) Polymyography in the diagnosis of childhood onset movement disorders.Eur J Paediatr Neurol 12 (6):480-3. DOI:10.1016/j.ejpn.2007.12.007 PMID: 18282774.
Bruno MK, Lee HY, Auburger GW, Friedman A, Nielsen JE, Lang AE et al. (2007) Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia.Neurology 68 (21):1782-9. DOI:10.1212/01.wnl.0000262029.91552.e0 PMID: 17515540.
Assmann B, Surtees R, Hoffmann GF (2003) Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood-onset dystonia.Ann Neurol 54 Suppl 6 ():S18-24. DOI: 10.1002/ana.10628 PMID: 12891650.
Ahmed MA, Martinez A, Yee A, Cahill D, Besag FM (2008) Psychogenic and organic movement disorders in children.Dev Med Child Neurol 50 (4):300-4. DOI: 10.1111/j.1469-8749.2008.02043.x PMID:18312601.
Source:
Mary D. King, 2009. A Handbook of Neurological Investigations in Children. 1 Edition. Mac Keith Press.
Cite this: ICNApedia contributors.Investigations in Movement Disorders. ICNApedia, The Child Neurology Knowledge Environment. 21 November 2024. Available at: https://icnapedia.org/knowledgebase/articles/investigations-in-movement-disorders Accessed 21 November 2024.
