Journal Basic Info
- Impact Factor: 0.285**
- H-Index: 6
- ISSN: 2638-4558
- DOI: 10.25107/2638-4558
Major Scope
- Vascular Medicine
- Autism
- Family Medicine and Public Health
- Atherosclerosis
- Renal Disease
- Neurological Surgery
- Leukemia
- Neonatology
Abstract
Citation: Clin Case Rep Int. 2019;3(1):1114.DOI: 10.25107/2638-4558.1114
Spinal and Bulbar Muscular Atrophy: Case Report and Diagnostic Overview
Athar P , Bokhari H and Saleem S
Department of Neurology, University of Texas Health Science Center at Houston, USA Department of Neurology, Dow Medical College, Pakistan
PDF Full Text Case Report | Open Access
Abstract:
Spinal and bulbar muscle atrophy (SBMA), frequently known as Kennedy disease is an X-linked recessive disease. SBMA is characterized by bulbar and limb muscle weakness, atrophy and fasciculation, along with endocrine abnormalities leading to gynecomastia and infertility. The incidence of SBMA is 1/30,000 male births. It is caused by the repeated expansion of CAG on the X chromosome. The age of presentation depends on the numbers of CAG repeats, with an average of 43 years and the progression of the disease is slow, an estimated 2% decrease in muscle strength per year. Diagnosis of SBMA is made by NCS and needle EMG, which are a standard part of the evaluation of motor neuron disease. SMBA is often confused with other motor neuron disease, and definitive diagnosis is always required. We present a case of a 53-year-old male who presents with leg weakness and was initially treated as lumbar radiculopathy and was later diagnosed as SBMA
Keywords:
Spinal and bulbar muscle atrophy; Kennedy disease; Gynecomastia
Cite the Article:
Athar P, Bokhari H, Saleem S. Spinal and Bulbar Muscular Atrophy: Case Report and Diagnostic Overview. Clin Case Rep Int. 2019;3:1114.