Rapidly Worsening Bulbar Symptoms in a Patient with Spinobulbar Muscular Atrophy
نویسندگان
چکیده
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.
منابع مشابه
The Use of Korean Medicine to Treat Patients with Spinobulbar Muscular Atrophy, Kennedy’s Disease - A Case Study
OBJECTIVES Studies involving patients with spinobulbar muscular atrophy (SBMA), which is often referred to as Kennedy's disease, similar to those involving patients with progressive muscular disease (PMD), are rare. This paper reports a case study involving the use of Korean medicine to treat a patient with SBMA. METHODS We treated a patient with SBMA with unique symptoms by using various kin...
متن کاملTremor in X-linked recessive spinal and bulbar muscular atrophy (Kennedy's disease)
OBJECTIVE To study tremor in patients with X-linked recessive spinobulbar muscular atrophy or Kennedy's disease. METHODS Ten patients (from 7 families) with a genetic diagnosis of Kennedy's disease were screened for the presence of tremor using a standardized clinical protocol and followed up at a neurology outpatient clinic. All index patients were genotyped and showed an expanded allele in ...
متن کاملامیوتروفیک لترال اسکلروزیس یا بیماری کندی: گزارش یک مورد بیماری
Kennedy's Disease (KD) Bulbar and spinal muscular atrophy (BSMA) is an adult onset, X-linked, recessive disorder caused by expansion of a polymorphic CAG tandem repeat. Because Kennedy’s clinical symptoms overlap with some other neuromuscular disorders such as amyotrophic lateral sclerosis (ALS) or spinal muscular atrophies, KD sometimes is misdiagnosed or left unnoticed. Here we describe a...
متن کاملProtein Arginine Methyltransferase 6 Enhances Polyglutamine-Expanded Androgen Receptor Function and Toxicity in Spinal and Bulbar Muscular Atrophy
Polyglutamine expansion in androgen receptor (AR) is responsible for spinobulbar muscular atrophy (SBMA) that leads to selective loss of lower motor neurons. Using SBMA as a model, we explored the relationship between protein structure/function and neurodegeneration in polyglutamine diseases. We show here that protein arginine methyltransferase 6 (PRMT6) is a specific co-activator of normal and...
متن کاملPatient‐identified impact of symptoms in spinal and bulbar muscular atrophy
INTRODUCTION The effects of spinal bulbar muscular atrophy (SBMA) on quality of life (QoL) are not well understood. This study describes symptoms from the patient's perspective and the impact these symptoms have on QoL. METHODS We conducted open-ended interviews with 21 adult men with genetically confirmed SBMA. Using a qualitative framework technique, we coded and analyzed interviews to iden...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره 5 شماره
صفحات -
تاریخ انتشار 2013