Beyond motor neurons: expanding the clinical spectrum in Kennedy's disease.

Abstract excerpt

Kennedy's disease, or spinal and bulbar muscular atrophy (SBMA), is an X-linked neuromuscular condition clinically characterised by weakness, atrophy and fasciculations of the limb and bulbar muscles, as a result of lower motor neuron degeneration. The disease is caused by an abnormally expanded triplet repeat expansions in the ubiquitously expressed androgen receptor gene, through mechanisms which are not...

Topics

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• Autonomic Nervous System Diseases
• Motor Neurons
• Muscular Atrophy
• Phenotype
• Trinucleotide Repeat Expansion