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Therefore, clear strategies involving criteria for clinical evaluation and ancillary tests such as electromyography, muscle biopsy and magnetic resonance imaging, must be set up to establish the presence of upper and lower motor neuron abnormalities.
Depending on the associated clinical symptoms and signs, they may signify the presence of a variety of disorders of the lower motor neuron.
The lesions are those of a lower motor neuron disease which appeared to have a genetic cause.
Our results suggest that the lesion location determines a specific pattern of motor excitability changes.
The clinical observations are consistent with a primary abnormality of lower motor neuron function.
These observations refine previous clinical descriptions of upper motor neuron weakness and have implications for its pathophysiology.
The present case and two reported similar cases may constitute a new subgroup of motor neuron disease.
We have no evidence to indicate the site of the lesion within the motor neurone which, it seems probable, accounts for these changes.

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