A 51-YEAR-OLD man with a history of prominent muscle cramps and adult-onset diabetes mellitus was seen for slowly progressive muscle weakness and atrophy predominantly affecting the proximal shoulder girdle muscles. He had no bulbar symptoms, but tongue, facial, and, particularly, perioral fasciculations were prominent. He had modest sensory disturbances, and his tendon reflexes were markedly depressed, findings that were attributed to diabetes mellitus neuropathy. Careful family history assessment revealed numerous neurologically healthy relatives with diabetes mellitus but no family history of Kennedy disease or any similar phenotype.
Paparounas K, Gotsi A, Syrrou M, Akritidis N. Kennedy DiseaseAvoiding Misdiagnosis. Arch Neurol. 2003;60(6):893-894. doi:10.1001/archneur.60.6.893