British Paediatric Neurology Association

Diagnostic and Advisory Service for Rare Neuromuscular Diseases

The Department of Health has agreed long-term funding for the establishment of four Centres for the investigation of the rare neuromuscular disorders listed above. This complements the services available from existing neuromuscular clinics and is not a challenge to them. However, these disorders are so uncommon that existing neuromuscular units can not have all of the facilities available for their full assessment. The establishment of these four Centres represents a very considerable advance in the services available to patients suffering from these conditions, and puts the UK ahead of many other countries.

The service is free to the referring Health Authority (although the cost of patient travel is not covered). The service currently covers England and Scotland. Negotiations are taking place for Wales and Ireland.

Definitive diagnosis of each requires identification of the primary gene defect. This is complicated by marked genetic heterogeneity and the need to screen multiple exons. Appropriate genetic studies may be directed by findings from clinical evaluation, specialised neurophysiological studies, and muscle biopsy findings (particularly Western blotting). Some of these facilities are already available in a few existing neuromuscular units. The Diagnostic and Advisory Service for Rare Neuromuscular Disorders therefore provides several levels of service ranging from complete evaluation of the patient (admission, neurophysiology, muscle biopsy, Western blotting, DNA analysis) to DNA diagnosis only. Access to the service is through the completion of a specific Pre-referral form, which can be obtained from the individual Centre, or from the NSCAG secretary, Susan Robinson, in Newcastle (address details below). Each Centre will also be pleased to discuss individual cases by telephone or letter prior to formal referral.

Limb-girdle muscular dystrophy – Newcastle (Prof. Kate Bushby)

0191-222-6973 Fax 0191-222-5227 e-mail n.scag@ncl.ac.uk

Congenital muscular dystrophies – Hammersmith Hospital (Prof. Francesco Muntoni)

0208-383-3295 e-mail f.muntoni@ic.ac.uk

Muscle channelopathies – Queen Square (Dr. Mike Hanna)

0207 8373611 ext 4251 e-mail m.hanna@ion.ucl.ac.uk

Congenital myasthenic syndromes – Oxford (Prof. John Newsom-Davis)