Proton Magnetic Resonance Spectroscopy in Kennedy Syndrome

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Abstract
KENNEDY DISEASE (KD), or X-linked spinobulbar muscular atrophy, is a motor neuronopathy caused by an expansion of a cytosine-adenine-guanine (CAG) repeat motif in the androgen receptor gene.1 The clinical picture of KD is distinctive. In their article published 30 years ago, Kennedy and coworkers2 described the typical phenotype and the X-linked recessive pattern of inheritance. Clinical signs include weakness of the limbs, mainly with proximal distribution, and bulbar symptoms with prominent weakness and fasciculation of the facial muscles and tongue. Additional symptoms are gynecomastia, postural tremor, and diabetes in some patients. The disease typically manifests in the third to fifth decade of life. Although similarities of KD and amyotrophic lateral sclerosis (ALS) do exist, there are no clinical findings suggesting upper motor neuron involvement in KD.