Best Practice Guidelines on Molecular Diagnostics for Duchenne/Becker muscular dystrophies

Following a meeting of senior scientists from Australia, Europe, USA and India in The Netherlands in November 2008, a consensus Best Practice Guidelines for molecular diagnosis of Duchenne and Becker muscular dystrophy has also been published in Neuromuscular Disorders [20(6):422-427].

The guidelines recommend the appropriate tests that are to be carried out, interpretation of the results and how those results should be reported.

Specimen Collection

Many of us can relate to receiving poor quality tissue, and this was one issue that is key to improving diagnosis for neuromuscular disorders. As part of a working party to develop guidelines for improved diagnosis, Paul Kennedy, Senior Scientific Officer at the State Neuropathology Service, has kindly provided a detailed set of specimen collection guidelines.

The guidelines outline how to prepare biopsy kits to provide to clinical staff, how to send the specimens, how to process the specimens, how to freeze tissue – critical pathways to ensuring that the tissue is of the highest quality for diagnosis.

Emergency Guidelines

A French group have developed recommendations to assist emergency staff in responding to patients affected by muscular dystrophy. The guidelines address anaesthesia, drug interactions and diagnostic measures in emergency.

Diagnosis and management of limb girdle muscular dystrophies

These guidelines outline best practice management of the limb girdle muscular dystrophies (LGMD) to assist neurologists in early and accurate diagnosis and treatment of LGMD.

A Dutch guideline for the treatment of scoliosis in neuromuscular disorders

In order to optimize the treatment for scoliosis in neuromuscular disorders a Dutch guideline has been composed. This evidence-based, multidisciplinary guideline addresses conservative treatment, the preoperative, perioperative, and postoperative care of scoliosis in neuromuscular disorders.

Evidence-based guideline: Intravenous immunoglobulin in the treatment of neuromuscular disorders

This American Academy of Neurology (AAN) evidence-based guideline summarizes the evidence and makes recommendations regarding IVIg use in treating patients with neuromuscular disorders.

Respiratory Management of Children with Neuromuscular Weakness Guideline Group On behalf of the British Thoracic Society Standards of Care Committee

The British Thoracic Society Guidelines for the Respiratory Management of Children with Neuromuscular Weakness has been published as a supplement to the July 2012 issue of Thorax. The full document can be downloaded here.