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.
Within the service we offer different levels of highly specialized investigations according to the needs of the patient and his/her referring clinician. This may be one of the following:
- A patient may be admitted to a hospital in Newcastle for specialized clinical investigations, a muscle biopsy and subsequent protein analysis, and gene mutation analysis.
- The patient doesn’t travel to the referral centre. Protein analysis is undertaken using a frozen muscle biopsy taken previously somewhere else and stored. These investigations guide and focus subsequent genetic analysis on DNA from a blood sample.
- The patient attends as an outpatient only, protein analysis is undertaken on a previously stored biopsy, and DNA analysis is performed.
Based on the precise diagnosis and clinical assessment, for patients who are seen in Newcastle, specific advice on physiotherapy and other aspects of day-to-day support as well as genetic counselling will be provided. For patients not seen in Newcastle, the information will be provided for local physicians and other professionals to provide appropriate follow-up.
Ongoing follow-up is offered to all patients if requested, if no local service is offered for the patients, in the case of extremely rare or novel conditions and for those patients for whom a genetic diagnosis has not yet been achieved. For these patients, genetic testing of novel genes is performed.