Myotonic Dystrophy

Diseases covered

We see patients with both myotonic dystrophy type 1 and 2.
Myotonic dystrophy type 1 and 2 are multi-system genetic diseases which mainly affect the muscle, heart, bowels, eyes and brain.
They are progressive conditions which vary in severity and age of onset.
 

Our service is one of the main UK referral centres for patients with myotonic dystrophy. We see referrals from throughout the UK. 

Diagnosis and treatment

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

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.

How to refer 

Please write to the following address:
Dr. Chris Turner
MRC Centre for Neuromuscular Diseases
Box 102
National Hospital for Neurology and Neurosurgery
Queen Square
London WC1N 3BG

Further information and support

Myotonic Dystrophy Support Group 

• Tel: 0115 987 0080
• myotonicdystrophysupportgroup.org
• E-mail: contact@mdsguk.org

Muscular Dystrophy UK

• Tel: 0800 652 6352
• www.musculardystrophyuk.org/
• E-mail: info@musculardystrophyuk.org

Meet the team

The service is led by:

The service also has close links to the following:

Research projects and trials

A recent audit provided evidence that there is a variation in management of myotonic dystrophy in the UK. 

Myotonic Dystrophy National Registry

In conjunction with the TREAT-NMD the Myotonic Dystrophy National Registry has been created.

A Standards of Care assessment will lead to standardisation and improvement in paitent services.