The centre has made a major international clinical and scientific contribution in this field, and now also includes congenital myopathies.
The National Commissioning Group (NCG) Diagnostic and Advisory Service for Rare Neuromuscular Disorders involves three other centres in the UK:
Newcastle ‑ limb-girdle muscular dystrophies
Oxford ‑ congenital myasthenic syndromes
London, Institute of Neurology ‑ ion-channel disorders
In addition to the NCG service, the Muscle Biopsy service, located at the Institute of Neurology at Queen Square, provides a diagnostic service for all paediatric neuromuscular disorders. A dedicated team with expertise in paediatric muscle conditions works closely with adult muscle and nerve pathology services.
The NCG service is funded on a national level by the Department of Health and it is currently free of charge for patients living in England and Scotland.
Referrals from outside England and Scotland can be processed by the DNC but appropriate costs will be charged.
The service provided under the NCG scheme comprises a clinical multidisciplinary assessment of patients affected by various forms of congenital muscular dystrophies and congenital myopathies, which include:
Laminin- α 2 deficient congenital muscular dystrophy, MDC1A (due to mutations in the LAMA2 gene)
Ullrich congenital muscular dystrophy, UCMD (caused by mutations in collagen 6 genes COL6A1, COL6A2 and COL6A3)
Rigid spine syndrome, RSMD1 (due to mutations in the SEPN1 gene coding for selenoprotein N)
Conditions associated with defects in a-dystroglycan glycosylation including MDC1C, MDC1D, FCMD, muscle-eye-brain disease, Walker Warburg Syndrome, (due to mutations in POMT1, POMT2, POMGnT1, FKRP, fukutin and LARGE )
Congenital myopathies, core myopathies (due to mutations in RYR1, SEPN1), nemaline myopathies (caused by mutation in ACTA1)
Download a full list of genetic, histological and histochemical tests available in the centre.
Skin fibroblast culture facilities are available to facilitate the diagnosis in clinically suspected cases of UCMD, before mutation analysis is carried out.
Immunocytochemical analysis of CVS samples is performed in parallel to the genetic analysis for the prenatal diagnosis on MDC1A and UCMD.
DNA samples may be sent directly to the DNA laboratory at Guy's Hospital. Instructions for sending samples and the referral address are included in our
Requests for gene testing should comply with our genetic diagnostic criteria, which we use to gatekeep the service.