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Diagnosis
Patients and affected family members have access to genetic testing (blood test).
We also offer counselling.
Bart's Heart Centre
We have links with Professor Elliott and Dr Pantazis (Consultant Cardiologists) who review most of our patients.
Their service provides access to:
- A full range of cardiological investigations (cardiac MRI and electrophysiological testing)
- Insertion and monitoring of permanent pacemakers and implantable cardioverter defibrillators.
We offer full respiratory support services including:
- Sleep studies (in and outpatient)
- Non-invasive ventilation
Treatment
Pharmaceutical treatments for myotonia include:
- Mexiletine
- Modafinil (for excessive daytime sleepiness)
Patients have access to a specialist Neurogastroenterologist (Dr Emmanuel) to manage gastrointestinal issues.
We also provide specialist orthotics as well as a physiotherapy service for 'foot drop'.
The Neuromuscular Complex Care Centre (NMCCC) has transformed the care available for patients.