Presentations
- Breathing difficulties / Shortness of breath
- Cardiac arrhythmia
- Confusion
- Decreased urine and dark red / brown colour
- Difficulty speaking, swallowing, and/or chewing
- Disordered movement of facial muscles, including:
- Fatigue
- Headaches
- Muscle cramps, spasms, and/or twitches
- Muscular difficulties, such as aching, coordination problems, difficulty walking, stiffness, swelling, weakness, and/or paralysis
- Numbness
- Pain
- Purple-red skin rash
- Sciatica
- Sensory sensitivity
- Slurred speech
- Vision problems, including:
- Weakness
Conditions – brain and brain stem
- Acute disseminated encephalomyelitis (ADEM)
- Bickerstaff encephalitis
- Brain malformation disorders
- Degenerative disease, such as:
- mucopolysaccharidoses (MPS)
- Degenerative genetic disease
- Multiple sclerosis (MS)
- Myelin oligodendrocyte glycoprotein (MOG) disorders and myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD)
- Neuromyelitis optica spectrum disorders (NMO)
- Static encephalopathy
- Stroke
- White matter disorders, such as:
Conditions – muscle
- Becker muscular dystrophy
- Dermatomyositis
- Duchenne muscular dystrophy
- Inflammatory myopathy
- Inherited muscle disease, including:
- congenital myopathies
- metabolic myopathies
- Myotonic dystrophy
- Other muscular dystrophy, such as:
- facioscapulohumeral
- limb girdle
- Polymyositis
- Rhabdomyolysis
Conditions – neuromuscular junction
- Botulism
- Lambert–Eaton myasthenic syndrome
- Myasthenia gravis
Conditions – peripheral nerves
- Bell’s palsy
- Entrapment neuropathies
- Guillain–Barré syndrome
- Miller Fischer syndrome
- Other acquired and inherited peripheral neuropathies
- Plexopathies
- Radiculopathies
Conditions – psychological
- Functional neurological disorder
Conditions – spinal cord
- Demyelination
- MS
- Neuromyelitis optica
- Spinal cord compression
- Spinal muscular atrophy
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
- Dystrophia myotonica
- Poliomyelitis
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 weakness, as well as disorders of:
- dysarthria
- dysphagia
- dysphasia
- language
- speech
- swallowing
- Neuroanatomy and neurophysiology of the pathways involved with speech and swallowing
- Neuroanatomy, neuropharmacology, and neurophysiology of the:
- motor pathways
- neuromuscular junction
- peripheral nerves
- somatic musculature
Cerebrospinal fluid (CSF) procedures and investigations
- Lumbar puncture (LP) and interpretation of investigation results, such as:
- basic CSF analysis:
- cell count
- cytology
- glucose level
- immunological tests
- microbiological tests
- protein level
- special tests:
- NMDAr antibodies and autoimmune encephalopathy panel
- oligoclonal bands
Clinical neurophysiology investigations
- Electromyography (EMG):
- needle EMG
- single-fibre EMG
- Evoked potentials:
- brainstem
- somatosensory
- visual
- Nerve conduction studies (NCS):
- motor and sensory studies
- repetitive nerve stimulation
Neurogenetic investigations
- Genetic testing, including, but not limited to:
- chromosomal testing, such as:
- genomic testing, including whole exome or genome sequencing
- mitochondrial genome sequencing
- targeted panel testing
- Referral to a neurogeneticist
Neuroimaging investigations
- Magnetic resonance:
- angiography (MRA)
- spectroscopy (MRS)
- venogram (MRV)
- MRI
- Myelography
Neuroimmmunology investigations
- Autoantibody measurement:
- anti-acetylcholine receptor antibodies
- anti-aquaporin 4 antibodies
- anti-MOG antibodies
- paraneoplastic antibodies
- Referral to a neuroimmunologist
Neuropathology investigations
Neuropsychological investigations
- Cognitive screening
- 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:
- B12 level
- creatine kinase
- fasting glucose and HbA1c
- thyroid function testing
- videofluoroscopy and swallow assessments
- Overlap with other allied health and medical specialties, such as:
- immunology
- medical genetics
- physiotherapy
- rehabilitation medicine
- speech pathology
- Prognosis and implications of these disorders
