X-linked Bulbospinal Neuronopathy

Abstract

Our data show that KD is a multisystem disorder with onset in adolescence. Because of the heterogeneity of clinical presentation and no correlation between the number of CAG repeats and most of the clinical hallmarks of KD, we suggest that other environmental or genetic factors contribute to the manifestation of specific organ systems in KD.

Case series: anesthetic management of patients with spinal and bulbar muscular atrophy (Kennedy’s disease)

“…7 The clinical manifestations usually begin in the fourth decade of life. 1,8 Early symptoms include hand tremor, muscle pain (often associated with increased creatine kinase levels), and premature muscle exhaustion. The loss of lower motor neurons supplying the bulbar musculature results in bulbar symptoms such as difficulty with articulation 8 Up to 47% of patients also experience laryngospasms that occur spontaneously during routine daily activities, but are fortunately self-limited.…”

“…1,8 Early symptoms include hand tremor, muscle pain (often associated with increased creatine kinase levels), and premature muscle exhaustion. The loss of lower motor neurons supplying the bulbar musculature results in bulbar symptoms such as difficulty with articulation 8 Up to 47% of patients also experience laryngospasms that occur spontaneously during routine daily activities, but are fortunately self-limited. 3,4 Later motor symptoms include proximal extremity weakness (more severe than distal), muscle atrophy, and fasciculations (particularly of the lower face), which begin to manifest in the fifth decade of life.…”

“…3,4 Later motor symptoms include proximal extremity weakness (more severe than distal), muscle atrophy, and fasciculations (particularly of the lower face), which begin to manifest in the fifth decade of life. 1,8 Profound bulbar dysfunction occurs late in the disease process, and these patients are at risk for repeated aspiration. 8 The disease is also marked by androgen insensitivity, and male patients can develop gynecomastia and testicular atrophy and are less likely to develop alopecia.…”

“…1,8 Profound bulbar dysfunction occurs late in the disease process, and these patients are at risk for repeated aspiration. 8 The disease is also marked by androgen insensitivity, and male patients can develop gynecomastia and testicular atrophy and are less likely to develop alopecia. 2,9,10 Some features of the clinical presentation of KD resemble the early stages of amyotrophic lateral sclerosis (ALS), and the disorder is often misdiagnosed.…”

Swallowing markers in spinal and bulbar muscular atrophy

“…Spinal and bulbar muscular atrophy (SBMA), or Kennedy's disease, is a hereditary neuromuscular disease characterized by muscle atrophy, weakness, dysarthria, and dysphagia 1, 2, 3. SBMA exclusively affects adult males, and the disease progression is slow.…”