Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0032290 (aspiration pneumonia)
 2,291 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease, with a 38 CAG-repeat expansion in exon-1 of the androgen receptor gene, presenting with a 2-year history of mild speech difficulty, dysphonia, and occasional choking. Initial clinical features and complementary studies were consistent with SBMA. The disease progression, as assessed by the Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised, remained stable over the first 5 years from the onset but showed a rapid decline (from 42 to 24 points) over the next 18 months before his death. In the later stages of the disease, deep tendon reflexes were preserved in limbs and a brisk jaw-jerk reflex and bilateral Hoffmann sign were evident. Survival from disease onset was 78 months. The final cause of death was aspiration pneumonia. The atypical clinical features, evolution, and accelerated disease course are not concordant with the relatively short 38 CAG-repeat expansion in the androgen receptor gene. This may represent either a variant SBMA phenotype, which has not been recorded to date, or the development of amyotrophic lateral sclerosis in a known case of SBMA.
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PMID:Kennedy disease with biphasic clinical course and rapid progression. 2487 16