This presentation will help nurses understand the symptoms and related pathology of their patient with Kennedy disease. Kennedy Disease is an X-linked, recessive genetic disorder affecting 1 in 50, 000 males. Most patients present between 30-50 years of age, although onset had been detected as early as 18 years of age. Kennedy disease is also known as Spinal Bulbar Muscular Atrophy (SBMA) or X-linked Spinal Bulbar Muscular Atrophy. It is often mistaken for Amyotrophic Lateral Sclerosis (ALS) or Multiple Sclerosis (MS) because the similar presentation of the disease early stages. All three are, progressive degenerative disorder affecting the lower motor neurons. The difference is in the mechanism by which the neurons are destroyed. While ALS and MS are demyelination of neurons, SMBA is caused by the toxic effect and the loss of function of the androgen receptor (AR) protein that kills the cell. This presentation will look at a case study, explore some mechanisms of the disease process, new findings that describe the functional involvement of the somatosensory system, and gray matter and white matter changes using MR tensor imaging and magnetoencephalographic study. Most literature studies of the Kennedy disease consisted of small samples, from a single case study to 40 SBMA patients. The largest study in Korea by Song, Kim, Min, et al (2015) which consisted of 40 confirmed SBMA patients for which they studied the genotype-phenotype correlation. It showed that the longer the CAG repeat, the younger is the onset of the disease. This study also noted that the earlier the onset, the slower the progression, leading to disease not being diagnosed for a long time from the onset of symptoms or misdiagnosed.
