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

^*Correspondance to: Saleem S 

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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.