Kennedy’s Disease and Progressive Muscular Atrophy: Diagnostic Overlap – A Case Report

Kennedy’s disease (KD), also known as spinal and bulbar muscular atrophy (SBMA), is a rare X-linked disorder of the lower motor neurons that may clinically resemble progressive muscular atrophy (PMA) variety of motor neuron disease, creating diagnostic challenges. We report a 50-year-old man with a 12-year history of progressive limb weakness, muscle wasting, and dysphagia. Examination revealed proximal muscle atrophy, tongue fasciculation, preserved reflexes, and testicular atrophy. Laboratory studies showed normal creatine phosphokinase with marginally elevated aldolase. Electromyography indicated chronic denervation, while imaging excluded central pathology. Genetic testing of the androgen receptor (AR) gene showed one allele within the normal CAG repeat range, leaving the presence of an expanded allele uncertain. This case lacks the characteristic clinical and EMG precision for PMA whereas the diagnosis of KD remains unsettled due to inconclusive DNA reports.