Neuromuscular diseases affect the motor nerve cells, the peripheral nerves, the junction between nerve and muscle, or the muscles themselves. The shared feature is weakness, sometimes with wasting, cramps, numbness or fatigue.
There are hundreds of individual disorders, many of them genetic and rare. Some, such as myasthenia, inflammatory neuropathies and myositis, respond well to treatment, and a few genetic conditions now have targeted therapies, so an exact diagnosis is worth pursuing.
Conditions this service looks after
- Motor neurone disease (ALS)
- Spinal muscular atrophy
- Peripheral neuropathies, including Charcot-Marie-Tooth disease
- Guillain-Barre syndrome and CIDP
- Myasthenia gravis and Lambert-Eaton syndrome
- Muscular dystrophies
- Inflammatory myopathies such as polymyositis and dermatomyositis
- Metabolic and mitochondrial myopathies
Tests you may be offered
- Examination of the pattern of weakness: Which muscles are affected narrows the possibilities considerably.
- Creatine kinase and other blood tests: CK rises in muscle disease; antibodies identify myasthenia and myositis.
- Nerve conduction studies and EMG: Separate nerve, junction and muscle disorders.
- Genetic testing: Now first-line for suspected dystrophies, SMA and CMT, often avoiding a biopsy.
- Muscle MRI: Shows which muscles are involved and guides biopsy.
- Muscle or nerve biopsy: For inflammatory or unclear cases.
- Breathing and heart tests: Spirometry, sleep study, ECG and echocardiogram, since both systems can be affected silently.
Treatments available
- Immunotherapy: Steroids, IVIg and immunosuppressants for autoimmune conditions.
- Gene-targeted therapies: Nusinersen, risdiplam or gene replacement for SMA; exon-skipping drugs for some Duchenne mutations, with modest benefits.
- Riluzole and multidisciplinary care: For ALS, including nutrition and non-invasive ventilation, which extend survival.
- Enzyme replacement: For Pompe disease.
- Physiotherapy, orthoses and mobility aids: Maintain function and prevent contractures.
- Cardiac and respiratory care: Pacemakers, heart failure drugs and night-time ventilation when required.
When to ask for a specialist opinion
- Progressive weakness, such as difficulty with stairs or rising from a chair
- Muscle wasting or persistent twitching
- A raised CK without explanation
- A family history of muscle or nerve disease
- Weakness with breathlessness when lying flat
Travelling to Türkiye for this care
A focused work-up with EMG, MRI, antibody and genetic testing takes 3 to 5 days, with genetic results following in 4 to 8 weeks. It suits people who have waited years for a diagnosis. Expensive lifelong therapies, ventilation support and ALS care must be organised at home, so check what your own health system will fund.
Send your reports, scans and a short history and a Clinic-Y coordinator replies within 24 hours with suitable teams and written, all-inclusive proposals side by side. Reviewing your case is free.
الأسئلة المتكررة
Is muscle twitching a sign of ALS?
Twitching without weakness or wasting is nearly always benign. A normal examination and EMG are reassuring.
Do I need a muscle biopsy?
Less often than in the past. Genetic testing has replaced it for many inherited conditions.
Can exercise damage my muscles?
Moderate aerobic and gentle strength exercise is safe and helpful in most conditions. Avoid exhausting eccentric exercise, and ask for individual advice.