Muscle Biopsy Diagnostic Service

Histopathological analysis of muscle biopsies makes an essential contribution to the multidisciplinary diagnostic pathway of a patient with a neuromuscular problem. 

Most neuromuscular disorders are inherited and the Centre of Inherited Neuromuscular Diseases, headed by Professor Tracey Willis, is a UK Centre of Excellence for the management of childhood and adult patients with a neuromuscular problem.

The Histopathology service, established at RJAH in1998 by Professor Sewry, involves specialist procedures on frozen muscle biopsies.

Sections of frozen muscle biopsies are essential for studies of various enzymes in individual muscle fibres and for the localisation of proteins in muscle using specialised techniques.

Abnormalities caused by various inherited defects can be detected histopathologically in muscle biopsies and aid molecular analyisis which is essential for diagnosis, disease management and genetic counselling.

The Muscle Biopsy Diagnostic Service has recently been complemented by Professor Federico Roncaroli, Reader in Neuropathology & Honorary NHS Consultant, Division of Neuroscience and Experimental Psychology at the University of Manchester.

He leads a reporting team which also supports Birmingham Children’s Hospital.  

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