Key result
Schwartz-Jampel syndrome case reveals severe cerebellar vermis hypoplasia, ataxia, and intellectual disability with normal EMG.
Case Report (n=1)
This case report details the clinical, radiological, and electrophysiological findings in a patient with severe cerebellar vermis hypoplasia and ataxia.
Raises possibility of cerebellar involvement in Schwartz-Jampel syndrome; single case leaves open expanded phenotype requiring confirmation.
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Arimura et al. (1996) conducted a case report in Schwartz-Jampel syndrome (n=1). Clinical and radiological evaluation was evaluated on Clinical, MRI, EEG, and EMG findings. Clinical and radiological evaluation of a patient with Schwartz-Jampel syndrome revealed severe cerebellar vermis hypoplasia, cerebellar ataxia, and intellectual disability, with normal EMG findings.
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