Six issues in muscle disease

Clinical assessment of a patient presenting with a neuromuscular disorder follows a standardised path, hallowed by clinical practice. Symptomatic history, family history and physical examination are followed by the development of a plan for further investigation, usually involving a blood creatine kinase level, other biochemical tests and, perhaps, an immunological assessment. Clinical neurophysiological studies and muscle biopsy are also nearly always used, although, increasingly, especially in suspected Duchenne muscular dystrophy and limb-girdle muscular dystrophies, genetic investigations not only supplement but may even replace this diagnostic test sequence. This clinical protocol, based on research developments during the past 50 years, progresses from syndromic recognition to more precise molecular and genetic diagnoses. The assumptions underlying this classical approach are seldom critically considered but may themselves imply a need for a modified approach. For example, the current diagnostic categories represent an uneasy synthesis of classical syndromic terminology and modern molecular biology.1...

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