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Abstract
The concept of the differential diagnosis has a central place in all clinical medicine.
In neurology and paediatrics, evolution of thought concerning the differential diagnosis
of the child presenting with symptoms of neuromuscular disease was far in advance
of similar diagnostic approaches to problems of infectious, infective and neoplastic
disease; and as such forms a significant historical model for the development of modern
clinical approaches to the sick or disabled child. The account presented in this paper
provides a detailed historical review of the development of thought relating to the
causes of neuromuscular disease. Nosological developments concerning diseases of the
motor unit can be conveniently classified into three periods: (a) a “state of the
art” period to 1850; (b) 1850–1890 — a period of parallel and interdependent advances
in both normal neuro-anatomy and neurophysiology, and diseases recognized as variations
from such norms. In this era Duchenne was the first to write about the differential
diagnosis of the progressive muscular paralysis in childhood; and Gowers was the first
to write specifically on the hereditary transmission of this group of diseases; (c)
in 1891 was described the first case of childhood neuronopathy recognized as such,
and with this development was ushered in the modern era of clinical differential diagnosis
of childhood neuromuscular disease.
The “splitters” have won the great debate concerning the clinical approach to neurological
diseases. The continual further refining of an exact diagnosis is the only way in
which a realistic prognosis can be forecast, correct genetic counselling can be offered,
and (if the condition is treatable) optimal therapy can be introduced.
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References
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