X-linked spinobulbar muscular atrophy (Kennedy's disease) affects muscles and motor neurons, manifesting as weakness and wasting of bulbar, facial, and proximal limb muscles due to loss of anterior horn cells in the brain and spinal cord. We present the case of a patient with X-linked spinobulbar muscular atrophy with rapidly worsening bulbar symptoms caused by laryngopharyngeal irritation associated with a viral upper respiratory tract infection, seasonal allergies and laryngopharyngeal reflux, who dramatically improved with multimodality therapy.
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http://dx.doi.org/10.4081/ni.2013.e21 | DOI Listing |
Int J Mol Sci
November 2024
Department for Life Quality Studies, University of Bologna, 47921 Rimini, Italy.
Ther Adv Neurol Disord
August 2024
Department of Neurology, Ulm University, Oberer Eselsberg 45, 89091 Ulm, Germany.
Background: This prospective study investigates the pattern of pareses in 5q-associated spinal muscular atrophy (SMA) to identify disease-specific characteristics and potential differences from amyotrophic lateral sclerosis (ALS) and spinobulbar muscular atrophy (SBMA). Detailed knowledge about pareses patterns in SMA facilitates differential diagnosis and supports therapeutic monitoring.
Methods: Between January 2021, and June 2021, 66 SMA patients (59.
Sci Rep
August 2024
Brain and Mind Centre, Faculty of Medicine and Health, The University of Sydney, Sydney, 2050, Australia.
Spinal and bulbar muscular atrophy (SBMA), or Kennedy's disease (KD), is a rare hereditary neuromuscular disorder demonstrating commonalities with amyotrophic lateral sclerosis (ALS). The current study aimed to define functional and central nervous system abnormalities associated with SBMA pathology, their interaction, and to identify novel clinical markers for quantifying disease activity. 27 study participants (12 SBMA; 8 ALS; 7 Control) were recruited.
View Article and Find Full Text PDFAnn Clin Transl Neurol
July 2024
Department of Neurology, Seoul National University Hospital, Seoul, Republic of Korea.
Objective: In comparison with amyotrophic lateral sclerosis (ALS), the contribution of neuroinflammation in spinobulbar muscular atrophy (SBMA) has been less explored. We investigated the role of neuroinflammation in the pathogenesis of ALS and SBMA by analyzing systemic inflammatory markers and osteopontin (Spp1).
Methods: This study involved 105 ALS, 77 SBMA, and 55 healthy controls.
J Laryngol Otol
May 2024
Department of Neurology, Korea University Ansan Hospital, Korea University, College of Medicine, Ansan, Republic of Korea.
Background: As autophony can be accompanied by several conditions, it is important to find co-morbidities. This paper reports a patient with Kennedy's disease (spinobulbar muscular atrophy, an X-linked, hereditary, lower motor neuron disease) having autophony as the first symptom.
Case Report: A 62-year-old male presented to the otorhinolaryngology department with autophony that began 2 years previously and worsened after losing weight 3 months prior to presentation.
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