Spinal and bulbar muscular atrophy (Kennedy disease) is an X-linked, adult-onset motor neuron disease characterized by slow, progressive weakness of the bulbar and extremity muscles with CAG triplet repeat expansion in the androgen receptor gene. Hirayama disease (HD) is characterized by the juvenile onset of asymmetric weakness and amyotrophy of the hand and is most common in males in Asia. We report a patient with atypical Kennedy disease presenting with asymmetric hand weakness and atrophy typical of HD.

We report a 53-year-old male having Kennedy disease who complained of severe bilateral tinnitus and autophony. He wasdiagnosed as patulous Eustachian tube based on the observation of fluttering motion of the tympanic membrane associatedwith respiration, which is presumed to occur secondary to bulbar weakness. The patulous Eustachian tube affected the managementof his respiratory problem by impairing his ability to tolerate BiPAP. We report this rare condition with a literaturereview.

Background
: Kennedy disease is a X-linked recessive disease characterized by bulbar symptoms, proximal muscle weakness, and gynecomastia. Methods : We analyzed clinical symptoms and performed electrodiagnostic studies on 6 patients. Results : We found following features: 1) proximal muscle weakness 2) bulbar symptoms, as dysarthria, facial and tongue atrophy 3) hyporeflexia or areflexia 4) fasciculations, predominantly on face, and proximal upper extremities 5) decreased sensory nerve action potentials(SNAPs) 6) chronic neurogenic changes in needle EMG. Conclusions : Kennedy disease is characterized by degenerative process of anterior horn cell and dorsal root ganglion without upper motor neuron dysfunction. Increased triple uncleotide CAG repeat(>38) in androgen receptor gene of Xp21 will confirm early stage of this disease.