Presentations – hyperkinetic
- Ataxia
- Athetosis
- Ballismus
- Chorea
- Difficulty speaking and swallowing
- Dystonia
- Fasciculations
- Jitteriness
- Myokymia
- Stereotypies
- Tics
- Tremor
Presentations – hypokinetic
- Bradykinesia
- Catatonia
- Depression and/or mood changes
- Postural instability
Conditions – hyperkinetic
- Ataxia:
- acute cerebellar ataxia, including:
- episodic ataxias
- hereditary ataxia syndromes:
- ataxia with oculomotor apraxia:
- ataxia-telangiectasia
- dentatorubral-pallidoluysian atrophy
- Friedreich ataxia
- spinocerebellar ataxia
- Cerebral palsy (CP)
- Chorea:
- benign hereditary chorea
- CP, including:
- secondary to hypoxic ischaemic encephalopathy
- glutaric aciduria
- Huntington disease
- metabolic abnormalities
- Sydenham chorea
- Wilson disease
- Dystonia:
- blepharospasm
- hemifacial spasm
- primary dystonias, such as:
- adolescent-onset dystonia of mixed type (DYT6)
- dopa responsive dystonia (Segawa disease)
- early-onset torsion dystonia (DYT1)
- myoclonus dystonia (DYT11)
- rapid-onset dystonia Parkinsonism (DYT12)
- secondary dystonia:
- acute dystonic reaction
- neuroleptic malignant syndrome
- oculogyric crisis
- serotonin syndrome
- status dystonicus
- Myoclonus:
- hyperekplexia
- myoclonic epilepsies
- primary myoclonic disorders:
- benign myoclonus of early infancy
- epileptic myoclonus of early infancy
- essential myoclonus
- myoclonus dystonia
- secondary myoclonic disorders
- startle epilepsy
- Other:
- baclofen withdrawal
- benign sleep myoclonus
- functional neurological disorders
- stereotypies
- Tourette syndrome and tic disorders
- Rett syndrome
- Tremor:
- drug-induced tremor
- essential tremor, and essential tremor plus
- metabolic / systemic causes of tremor
Conditions – hypokinetic
- Drug-induced Parkinsonism
- Functional neurological disorders
- Neurometabolic conditions
- Normal pressure hydrocephalus
- Progressive supranuclear palsy
- Sleep disorders, including:
- Structural brain abnormality
- Traumatic brain event:
- haemorrhage
- space-occupying lesion
- vascular
For each presentation and condition, Advanced Trainees will know how to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, prevalence, pathophysiology, and clinical science
- take a comprehensive clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigations
- consider the impact of illness and disease on patients and their quality of life when developing a management plan
Manage
- provide evidence-based management
- prescribe therapies tailored to patients’ needs and conditions
- recognise potential complications of disease and its management, and initiate preventative strategies
- involve multidisciplinary teams
Consider other factors
- identify individual and social factors and the impact of these on diagnosis and management
Conditions
- Cervical dystonia
- Facial dystonia
- Neurotransmitters disease
- Niemann–Pick disease type C
- Palatal tremor
- Parkinsonian syndromes
- Paroxysmal dyskinesias
- Treatable neurometabolic movement disorders, such as:
- congenital folate deficiency
- glucose transporter 1 (GLUT1)
- vitamin E deficiency
For each presentation and condition, Advanced Trainees will know how to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, prevalence, pathophysiology, and clinical science
- take a comprehensive clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigations
- consider the impact of illness and disease on patients and their quality of life when developing a management plan
Manage
- provide evidence-based management
- prescribe therapies tailored to patients’ needs and conditions
- recognise potential complications of disease and its management, and initiate preventative strategies
- involve multidisciplinary teams
Consider other factors
- identify individual and social factors and the impact of these on diagnosis and management
- Acute, chronic, common, and rare diseases that cause disorders of movement
- Neuroanatomy, neuropharmacology, and neurophysiology of the motor pathways
- Type of disorder, including:
- associated clinical features
- localisation
- time-course
Cerebrospinal fluid (CSF) procedures and investigations
- Lumbar puncture (LP) and interpretation of investigation results, such as:
- basic CSF analysis:
- cell count
- cytology
- folate
- immunological tests
- microbiological tests
- paired glucose level
- protein level
- opening pressure
- special tests:
- CSF neurotransmitters
- neopterin – CSF
- oligoclonal bands
Clinical neurophysiology investigations
- EEG:
- sleep-deprived EEG
- standard EEG
- video EEG
Neurogenetic investigations
- Genetic testing, including, but not limited to:
- chromosomal testing, such as:
- dystonia genes:
- DYT1
- DYT5
- DYT6
- DYT11
- DYT12
- genomic testing, including whole exome or genome sequencing
- mitochondrial genome sequencing
- targeted panel testing
- Referral to a neurogeneticist
Neuroimaging investigations
- CT, including:
- Functional imaging:
- functional MRI (fMRI)
- PET
- single photon emission computed tomography (SPECT)
- Magnetic resonance:
- angiography (MRA)
- spectroscopy (MRS)
- venogram (MRV)
- MRI
Neuroimmmunology investigations
- Anti-deoxyribonuclease B (anti-DNase B) titres
- Antistreptolysin O (ASO) titres
- Autoantibody measurement:
- anti-acetylcholine receptor antibodies
- anti-aquaporin 4 antibodies
- paraneoplastic antibodies
Neuropathology investigations
Neuropsychological investigations
- Cognitive screening:
- Mini-Mental State Examination
- Referral to a neuropsychologist
Other investigations
- Cardiac investigations:
- 24-hour electrocardiogram monitoring
- ECG
- echocardiography
- Lung function tests:
- formal lung function tests
- vital capacity
- Other laboratory tests:
- acanthocytes
- alpha-fetoprotein
- B12 level
- ceruloplasmin
- coenzyme Q
- copper
- creatinine kinase
- drug screen
- fasting lipid profile
- IgG subclasses
- thrombophilia screen
- urinary porphyrins
- vitamin E
- Polysomnography
- Overlap with other allied health and medical specialties, such as:
- medical genetics
- physiotherapy
- rehabilitation medicine
- Prognosis and implications of these disorders
