X-linked spinal and bulbar muscular atrophy (Kennedy’s disease): the first case described in the Brazilian Amazon

Abstract

The X-linked spinal and bulbar muscular atrophy (Kennedy’s disease) is a rare X-linked, recessive, lower motor neuron disease, characterized by weakness, atrophy, and fasciculations of the appendicular and bulbar muscle. The disease is caused by an expansion of the CAG repetition in the androgen receptor gene. Patients with Kennedy’s disease have more than 39 CAG repetitions. We report a case of 57-year-old man, resident of Monte Dourado (PA, Brazil) who complained of brachiocrural paresis evolving for 3 years along with fasciculations and tremors of extremities. In addition, he also developed dysarthria, dysphagia, and sexual dysfunction. The patient clinical picture included gait impairment, global hyporeflexia, proximal muscle atrophy of upper limbs, deviation of the uvula to right during phonation and tongue atrophy with fasciculations. The patient reported that about 30 years ago he had undergone gynecomastia surgery. His electroneuromyography suggested spinal muscular atrophy, and nuclear magnetic resonance imaging showed tapering of the cervical and thoracic spinal cord. Patient’s creatine kinase level was elevated. In view of the findings, an exam was requested to investigate Kennedy’s disease. The exam identified 46 CAG repetitions in the androgen receptor gene, which confirmed the diagnostic suspicion. This was the first case of Kennedy’s disease diagnosed and described in the Brazilian Amazon. To our knowledge only other four papers were published on this disease in Brazilian patients. A brief review is also provided on etiopathogenic, clinical and diagnostic aspects.

Atrofia muscular espinal y bulbar Enfermedad de Kennedy. Aspectos clínicos y genéticos

“…En casos de ginecomastia es posible realizar cirugía de reducción mamaria. Se deben prevenir las complicaciones secundarias, entre ellas la neumonía aspirativa debido a debilidad bulbar (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14) .…”

Altered Metabolism in Motor Neuron Diseases: Mechanism and Potential Therapeutic Target

“…Otherwise known as spinal and bulbar muscular atrophy (SBMA), Kennedy's disease is an X-linked recessive disease characterized by CAG repeats in exon 1 of the androgen receptor gene [42]. This MND is different from others as it only presents in male patients.…”

Extracellular vesicles: A new paradigm in understanding, diagnosing and treating neurodegenerative disease

“…Over the last few decades, advancement in human genetic studies and development of advanced molecular biology techniques have revolutionized our understanding in determining the causes of various NDs ( Paulson, 2009 ; Alves et al, 2018 ; Caron et al, 2018 ). In early 1990s, mutations underlying the common monogenic neurological disorders such as Huntington’s disease, Duchenne muscular dystrophy and Charcot-Marie-Tooth disease type 1 were identified and characterized.…”