Myopathy
Persistent muscle weakness and fatigue hinder everyday activities and mobility, calling for precise diagnosis and specialised interventions to strengthen muscle performance.
What is myopathy?
Myopathy refers to disorders where muscle fibres themselves are impaired, leading to weakness, early fatigability, cramps or pain. Causes range from inflammatory and metabolic conditions to genetic muscular dystrophies and medication- or endocrine-related problems. A clear diagnosis is essential because treatments differ widely.
Common symptoms
-
Proximal weakness (difficulty climbing stairs, rising from a chair, lifting arms)
-
Exercise intolerance, cramps, myalgia or stiffness
-
Falls, reduced walking speed or problems on uneven ground
-
Swallowing or speech changes when bulbar muscles are involved
-
Shortness of breath or poor cough with respiratory muscle weakness
-
Dark urine after exertion (possible rhabdomyolysis)
Why it happens (causes & types)
-
Inflammatory myopathies: polymyositis, dermatomyositis, immune-mediated necrotising myopathy, inclusion body myositis
-
Genetic: limb–girdle muscular dystrophies, dystrophinopathies, myofibrillar myopathies, congenital myopathies
-
Metabolic/mitochondrial: disorders of glycogen or fatty-acid oxidation (e.g., McArdle), mitochondrial myopathies
-
Endocrine/systemic: thyroid disease, Cushing’s, electrolyte disturbances, chronic steroid use
-
Drug/toxin-related: statins, alcohol, some antivirals/chemotherapy
-
Mimics/differentials: neuromuscular junction disorders (e.g., myasthenia), motor neuropathies—these are considered and excluded carefully
Diagnosis with neurophysiology expertise
-
Clinical assessment mapping pattern, tempo and triggers of weakness
-
Blood tests: CK/aldolase, thyroid, electrolytes, vitamin D; autoimmune myositis-specific antibodies (e.g., Jo-1, Mi-2, SRP, HMGCR) where indicated
-
EMG & nerve conduction studies: to confirm a myopathic pattern and exclude neuropathy or junction disorders
-
Muscle MRI (STIR/fat mapping): identifies inflamed or affected muscles and guides biopsy
-
Muscle biopsy with histology/immunohistochemistry when needed
-
Genetic testing (targeted panels or exome) for suspected inherited disease
-
Cardiorespiratory assessment: ECG/echo and lung function if cardiac or respiratory involvement is possible
Dr FM’s background in neurophysiology ensures high-quality signal acquisition and interpretation, shortening the path to a confident diagnosis.
Personalised treatment plans
-
Treat the cause:
-
Inflammatory myopathies – corticosteroids with a steroid-sparing agent (e.g., methotrexate, azathioprine, mycophenolate) and, where appropriate, IVIg or biologics.
-
Endocrine/toxic – correct thyroid/electrolytes, review or stop offending drugs (e.g., statins) and manage metabolic factors.
-
Genetic/metabolic – targeted supportive care, specialist referrals and clinical trial consideration when relevant.
-
-
Rehabilitation & function: goal-based physiotherapy (strength, balance, flexibility), occupational therapy (energy conservation, home/work adaptations), falls prevention, and orthotics if needed.
-
Swallowing & breathing: early speech and language therapy; respiratory review, cough-assist or non-invasive ventilation if indicated.
-
Pain & cramps: graded activity, hydration, magnesium if appropriate, and evidence-based analgesia plans.
-
Bone & general health: vitamin D/calcium, weight-bearing exercise, and steroid-related bone protection when used.
Living well with myopathy
With the right programme, many people gain strength, stamina and confidence. You’ll leave with a written plan covering safe exercise (low-to-moderate intensity, progressive), pacing, nutrition, and clear signs that should prompt review.
When to seek urgent help
Attend urgent care for rapidly worsening weakness, breathlessness at rest, severe swallowing difficulty, chest infection with poor cough, or dark urine and severe muscle pain after exertion (possible rhabdomyolysis).
FAQ
Is exercise safe?
Yes—supervised, graded exercise improves function; programmes are personalised to avoid overwork weakness.
Will steroids always be needed?
Only for specific inflammatory myopathies and usually alongside a steroid-sparing agent to minimise side-effects.
Can myopathy affect the heart or lungs?
Some forms can—hence proactive cardiac and respiratory screening and early support where needed.
BOOK YOUR CONSULTATION
Book a consultation with Dr Francesco Manfredonia (Dr FM) for clear diagnosis, compassionate care and a plan built around your life and goals.