Rapidly worsening bulbar symptoms in a patient with spinobulbar muscular atrophy
نویسندگان
چکیده
منابع مشابه
Rapidly Worsening Bulbar Symptoms in a Patient with Spinobulbar Muscular Atrophy
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 asso...
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...
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Background Tuberous Sclerosis Complex (TSC), and Spinal Muscular Atrophy (SMA) are two inherited disorders while they are genetically independent. TSC is characterized by the formation of multiple hamartomas in nearly all organs. SMA is a destructive neurological disorder leading to progressive muscular weakness and atrophy. Case Presentation</e...
متن کاملA mouse model of spinal and bulbar muscular atrophy.
Spinal and bulbar muscular atrophy (SBMA) is an adult-onset motor neuron disease, caused by the expansion of a trinucleotide repeat (TNR) in exon 1 of the androgen receptor (AR) gene. This disorder is characterized by degeneration of motor and sensory neurons, proximal muscular atrophy, and endocrine abnormalities, such as gynecomastia and reduced fertility. We describe the development of a tra...
متن کاملMolecular diagnosis of spinal and bulbar muscular atrophy in Slovakia.
OBJECTIVES Molecular-genetic analysis is a determining step in setting the diagnosis of spinal and bulbar muscular atrophy (SBMA). We present the first nation-wide study and experience with this disease and its diagnosis in Slovakia. The study is enriched by comparison of genetic findings from Slovak patients to patients from other countries. METHODS Molecular-genetic analysis was performed f...
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ژورنال
عنوان ژورنال: Neurology International
سال: 2013
ISSN: 2035-8377,2035-8385
DOI: 10.4081/ni.2013.e21