Curriculum standards

Knowledge guides

LG24: Movement disorders

Key presentations and conditions

Advanced Trainees will have a comprehensive depth of knowledge of these presentations and conditions.

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Less common or more complex presentations and conditions

Advanced Trainees will understand these presentations and conditions.

Advanced Trainees will understand the resources that should be used to help manage patients with these presentations and conditions.

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Epidemiology, pathophysiology, and clinical sciences

Advanced Trainees will have a comprehensive depth of knowledge of the principles of the foundational sciences.

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Investigations, procedures, and clinical assessment tools

Advanced Trainees will know the scientific foundation of each investigation and procedure, including relevant anatomy and physiology. They will be able to interpret the reported results of each investigation or procedure.

Advanced Trainees will know how to explain the investigation or procedure to patients, families, and carers, and be able to explain procedural risk and obtain informed consent where applicable.

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Important specific issues

Advanced Trainees will identify important specialty-specific issues and the impact of these on diagnosis and management and integrate these into care.

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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:
  - acute cerebellitis
- episodic ataxias
- hereditary ataxia syndromes:
  - ataxia with oculomotor apraxia:
    - type 1
    - type 2
  - 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:
- catatonia
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:
  - karyotype
  - microarray
- 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:
- CT angiography
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

Biopsy:
- brain
- muscle

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