Clin Case Rep Int | Volume 3, Issue 1 | Case Report | Open Access
Athar P1 , Bokhari H1 and Saleem S2*
1Department of Neurology, University of Texas Health Science Center at Houston, USA 2Department of Neurology, Dow Medical College, PakistanFulltext PDF
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
Spinal and bulbar muscle atrophy; Kennedy disease; Gynecomastia
Athar P, Bokhari H, Saleem S. Spinal and Bulbar Muscular Atrophy: Case Report and Diagnostic Overview. Clin Case Rep Int. 2019;3:1114.