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Diagnostic services

 

The John Walton Muscular Dystrophy Research Centre leads the National Specialised Commissioning Team (NSCT) service for rare neuromuscular disorders, and is specifically responsible, through the NHS Northern Genetics Service, for the National Limb Girdle Muscular Dystrophy (LGMD) Diagnostic and Advisory Service.

We provide diagnostic testing for over 24 different genes known to cause different forms of LGMD. This work, now led by Dr Rita Barresi, is based on pioneering antibody development by Dr Louise Anderson whose antibodies are still the key to diagnosis for many different types of muscular dystrophy. Over 500 patient samples are received each year.

 

Dr Rita Barresi

Muscle Immunoanalysis Unit
Dental Hospital
Richardson Road
Newcastle upon Tyne
NE2 4AZ

+44 (0) 191 282 0842

Diagnostic and Advisory Service for Limb Girdle Muscular Dystrophies

The National Referral Service is part of the NHS England Highly Specialised Service for Rare Neuromuscular Disorders. The aims are to improve the diagnosis and management of Limb Girdle Muscular Dystrophy – LGMD.

People with a suspected diagnosis of LGMD can be seen at Newcastle or have muscle or DNA sent for analysis.

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