Presentations
- Lung and other internal organ involvement in inflammatory muscle diseases
- Muscle:
- Skin manifestations of inflammatory muscle diseases
Conditions
- Endocrine-associated diseases
- Muscular dystrophies
- Myopathy:
- Rhabdomyolysis
For each presentation and condition, Advanced Trainees will know how to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, pathophysiology, and clinical science
- take a comprehensive clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigation
- consider the impact of illness and disease on patients and families, and their quality of life
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
Presentations
- Cardiomyopathy
- Dysphonia
- Emphysema, subcutaneous
- Incontinence:
- Muscle:
- fatigue, premature
- pain, with exercise
For each presentation and condition, Advanced Trainees will know how to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, pathophysiology, and clinical science
- take a comprehensive clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigation
- consider the impact of illness and disease on patients and families, and their quality of life
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
- Basic genetics and pathophysiology of metabolic myopathy and muscular dystrophy
- Basic histology, such as:
- dermatomyositis
- immune-mediated necrotising myopathy (IMNM)
- inclusion body myositis (IBM)
- polymyositis
- CD8+ T cell-mediated muscle damage in IBM
- Correlation between autoantibodies, clinical phenotype, muscle biopsy findings, and MRI muscle pattern / findings
- Distinctive pathophysiology of IMNM
- Heterogenous and wide spectrum of extra muscular manifestations
- Myositis autoantibodies and specific clinical phenotype of:
- antisynthetase syndrome
- hydroxy-3-methylglutaryl coenzyme A reductase (HMGCR) and signal recognition particle (SRP) with IMNM
- melanoma differentiation-associated protein-5 (MDA5) and clinically amyopathic dermatomyositis (CADM), with or without rapidly progressive interstitial lung diseases (ILD)
- Mi2 and classic dermatomyositis
- nuclear matrix protein 2 (NXP2) and calcinosis / atypical skin manifestation
- statin exposure and HMGCR positive IMNM
- TIF1-gamma and malignancy
Therapeutics
- Cancer association and screening
- Emerging therapies, such as chimeric antigen receptor (CAR) T-cell therapy and biologic agent
- Exercise, physical therapy, and rehabilitation
- Infection prevention, including appropriate vaccination
- Inflammatory myopathy treatment, such as:
- first line treatment with glucocorticoid
- second- and third-line treatment with:
- biologic agents, such as B cell depletion and Janus kinase inhibitors
- intravenous (IV) immunoglobulins, particularly in IMNM
- traditional immunosuppressants, such as:
- azathioprine
- cyclophosphamide
- cyclosporine
- methotrexate
- mycophenolate
- tacrolimus
- Management of extra-musculoskeletal manifestations, such as calcinosis treatment and dysphagia
- Neurology referral for non-inflammatory myopathy not requiring immunosuppression
- Upfront multi-agent immunosuppression, or rapid immunosuppression escalation, in cases at risk of rapid end-organ deterioration, such as in anti-melanoma differentiation-associated gene 5 (MDA5) rapidly progressive ILD
Imaging and other diagnostics
- CT – high-resolution chest
- Electromyography
- Lung function test
- MRI – muscle imaging
- PET-CT
Laboratory testing
- Anti-aquaporin-4 (Anti-AQP4)
- Anti-cytosolic 5'-nucleotidase 1A (Anti-cN1A) antibodies
- Anti-myelin oligodendrocyte glycoprotein (MOG)
- Antinuclear antibodies (ANA), including pattern and titre
- Biopsy, such as:
- C-reactive protein (CRP)
- Creatinine kinase (CK)
- Erythrocyte sedimentation (ESR)
- Extractable nuclear antibodies (ENA)
- Full blood count (FBC)
- HMG-CoA reductase antibodies
- Kidney function test (EUC)
- Liver function test (LFT)
- Myositis antibodies:
- myositis associated
- myositis specific
- Neuromuscular gene panel
- Thyroid function test (TFT)
- Cancer screening
- Ethical and social issues around genetic panels, such as:
- challenges of genetic panel in rare diseases with overlapping features, such as variant of insignificance and low penetrance
- implied versus explicit consent
- justification of genetic testing in emerging disease, including discussion on the efficacy of available treatments
- patient education on the implication and consequences of genetic results
- potential implications for the patient and/or family members
- Interpretation of positive myositis antibodies in patients without obvious clinical evidence of inflammatory myopathy
- Pitfall of commercially available myositis autoantibody testing
- Recognition of non-inflammatory myopathy to prevent misdiagnosis and misuse of immunosuppression
