McArdle disease and related disorders

Services for patients with McArdle disease and related disorders.

Diseases covered

This is a Highly Specialised Service which offers diagnosis and management for patients with McArdle Disease and other rare related muscle glycogen storage diseases.

The aim of the service is to provide accurate diagnosis, information, and appropriate advice to patients with McArdle Disease and related disorders.

We accept referrals for adults and children.

Pre-referral Form


We offer laboratory investigation for clinicians.

We offer lab result analysis and help with managing your condition.

Diagnosis and treatment

We offer laboratory investigation for clinicians.

We offer lab result analysis and help with managing you condition.

For clinicians

We provide the following tests:

  1. Genetic testing for two common mutations in McArdle disease: R50x and G205s. This will diagnose up to 70% of patients with McArdle disease
  2. DNA sequencing for all rare glycogenolytic and glycolytic disorders
  3. Muscle biochemistry for glycolytic enzyme analysis

We provide assessment and management reviews for people with McArdle disease and related disorders with the multidisciplinary team (physician, physiotherapist, clinical nurse specialist, clinical psychologist, dietician, and sports and exercise physiologist).

For patients

We are the only service in the world offering a multi-disciplinary approach to management. Our team includes a physician, physiotherapist, clinical nurse specialist, clinical psychologist, dietician and sports and exercise physiologist.

What our team provides

  • Confirm your diagnosis
  • Teach you techniques to manage your disease, such as how to reach a ‘second wind’
  • Provide you with information about the usual symptoms and variations of McArdle Disease and related disorders
  • Tell you about the best current management (diet and exercise)
  • Provide regular assessment and monitoring
  • Provide genetic counselling as appropriate
  • Provide emotional and psychological support
  • Teach you how best to avoid acute crises
  • Provide you with information about what to do if you require emergency treatment
  • Regular Management Clinics aimed at providing you with the best advice and support to help you manage your condition
  • Specialist exercise sessions for people with McArdle disease

What can I expect when I come for an appointment?

The multidisciplinary clinic appointments can take all day.

The McArdle Service Information Booklet provides more information on what you can expect when visiting the clinic.

McArdle disease and related disorders service.pdf

What is the exercise assessment?

The walking exercise assessment involves a gentle 12 minute walking test which helps us to determine how well patients can recover from exercise (second wind phenomenon).

It is important to wear comfortable shoes.

Walking assessment.pdf

You can also find some further advice in our Physiotherapy Exercise booklet.

McArdle physio exercise advice.pdf

 

The muscle biopsy patient information document (pdf) provides further information on what you can expect if you are told you need a muscle biopsy.

Glycogen storage diseases muscle biopsy.pdf

How to Refer

We accept referrals for adults and children. Referrals are accepted from General Practitioners (GPs) and Hospital Consultants, and referrals should be sent to the following addresses:

Adults and Children
Centre for Neuromuscular Diseases
The National Hospital for Neurology and Neurosurgery
Queen Square
London WC1N 3BG
Fax: 0203 448 3633

Further enquiries Yasmin Begum
Tel: 020 3448 8132
Fax: 020 3448 3633
uclh.mcardleservice@nhs.net

Please complete the pre-referral form in advance:
Pre referral form

Further information and support