The Highly Specialist Service for McArdle Disease and Related Disorders was established in 2011 at the National Hospital for Neurology and Neurosurgery (NHNN) to offer high-quality care to patients with McArdle disease and other related disorders. The service is the National Centre of Excellence for McArdle disease in the United Kingdom and manages over 300 patients nationwide.
The service aims to provide accurate diagnosis, information, and appropriate management to patients with McArdle Disease and related disorders.
The service is led by Professor Rosaline Quinlivan and a multidisciplinary team of a clinical nurse specialist, a highly specialist neuromuscular physiotherapist, a specialist exercise physiologist, a clinical psychologist, a senior clinical scientist, and highly specialist dietitians.
We conduct research into McArdle Disease and other related disorders to better understand how we treat and manage these conditions most effectively.
We are supported and work closely with the Association for Glycolytic Storage Disease (AGSD UK) and the International Association for Muscle Glycogen Storage Disease (IAMGSD).
General enquiries
Service management
Professor Rosaline Quinlivan and Yasmin Begum
Address
Centre for Neuromuscular Diseases
The National Hospital for Neurology and Neurosurgery
Queen Square
London WC1N 3BG
Referral address
Adults and Children
Centre for Neuromuscular Diseases
The National Hospital for Neurology and Neurosurgery
Queen Square
London WC1N 3BG
- McArdle Disease (GSD 5)
- Tarui Disease (GSD 7)
- Glycogen Storage Disease Type 9d
- Beta-enolase Deficiency (GSD 13)
- Glycogen Synthase Deficiency (GSD 0)
- RYR1
- Rhabdomyolysis
- Malignant Hyperthermia
We accept referrals for adults and children nationwide. Referrals are accepted from General Practitioners (GPs) and Hospital Consultants.
