Limb Girdle Muscular Dystrophy (LGMD) Service
The Highly Specialised Service for Limb Girdle Muscular Dystrophy is based within The Newcastle upon Tyne Hospitals NHS Foundation Trust (NuTH) and is part of the John Walton Muscular Dystrophy Research Centre (JWMDRC). This is a partnership between Newcastle University and The Newcastle upon Tyne Hospitals NHS Foundation Trust Hospitals. The Centre brings together and consolidates Newcastle’s distinguished, international and world-leading record in research and care for neuromuscular diseases.
Services
Patients with a suspected diagnosis of LGMD or overlapping clinical condition can be seen at Newcastle or have muscle or DNA sent for analysis:
- Protein analysis is performed within the Muscle Immunoanalysis Unit (MIU). Immunohistochemical and immunoblotting techniques are applied to skeletal muscle biopsy samples.
- Molecular genetic analysis of a panel of genes to identify disease causing variants. Classification of variants of uncertain clinical significance is also undertaken.
Referrals
Before sending any muscle samples to our service: a Pre-referral form and copies of any relevant clinical information (pathology report, clinic letters, MRI report etc.) must be sent for review. This helps with triage and guides what testing is required.
Turnaround times: the unit aims to issue finalised reports within 84 days of sample receipt. Please contact the unit for the referral of clinically urgent cases.
Contacts
For all referrals and enquiries:
nuth.hss.lgmd.referrals@nhs.net
Clinical enquiries (Head of Service):
Dr Chiara Marini-Bettolo 0191 241 8757
Molecular Genetic enquiries:
Dr Judith Hudson 0191 241 8667
Northern Molecular Genetics service,
Biomedicine East Wing,
International Centre for Life,
Central Parkway,
Newcastle upon Tyne,
NE1 3BZ
Muscle biopsy analysis enquiries:
Matt Henderson / Yolande Parkhurst 0191 282 0841
Muscle Immunoanalysis Unit, 0191 282 0842
Lower Ground Floor (Room 2.026), 0191 282 0846
Dental Hospital,
Richardson Road,
Newcastle upon Tyne,
NE2 4AZ