A 63-Year-Old Man with Progressive Limb Weakness and Slurred Speech

Kennedy’s disease, also known as spinobulbar muscular atrophy, is a rare X-linked recessive hereditary motor neuron disease. It is caused by an expansion of the CAG tandem repeat in the androgen receptor gene. The disease affects lower motor neurons in the brainstem and spinal cord that results in slowly progressive facial, bulbar, and limb weakness. Distal sensory neuropathy is also common. The diagnosis of Kennedy’s disease is made by genetic testing. However, a muscle biopsy is still done sometimes due to the lack of a high suspicion or awareness. As seen with other types of motor neuron diseases, muscle biopsy in Kennedy’s disease often shows prominent chronic active denervation changes and pseudomyopathic changes. Here, we present a case of Kennedy’s disease to illustrate its features.