spinobulbar muscular atrophy
- spinobulbar muscular atrophy
- (SBMA) an X-linked, adult-onset disorder with degeneration of lower motor neurons in the brainstem and spinal cord, characterized by distal limb amyotrophy and bulbar signs such as atrophy and fasciculations of the tongue and dysphagia, as well as androgen insensitivity with gynecomastia, testicular atrophy, and oligospermia. It is a triplet repeat disorder with expansion of CAG repeats in the AR gene (locus: Xq11-q12), which encodes the androgen receptor. Called also Kennedy disease.
Medical dictionary.
2011.
Look at other dictionaries:
bulbospinal muscular atrophy — spinobulbar muscular a … Medical dictionary
Kennedy disease — spinobulbar muscular atrophy … Medical dictionary
Androgen receptor — Structure of the ligand binding domain of the androgen receptor (rainbow cartoon) complexed with testosterone (white sticks).[1] … Wikipedia
Life Sciences — ▪ 2009 Introduction Zoology In 2008 several zoological studies provided new insights into how species life history traits (such as the timing of reproduction or the length of life of adult individuals) are derived in part as responses to… … Universalium
Motor neurone disease — Classification and external resources spinal diagram ICD 10 G12.2 … Wikipedia
Trinucleotide repeat disorder — Trinucleotide repeat disorders (also known as trinucleotide repeat expansion disorders, triplet repeat expansion disorders or codon reiteration disorders) are a set of genetic disorders caused by trinucleotide repeat expansion, a kind of mutation … Wikipedia
SBMA — spinal bulbar muscular atrophy * * * spinobulbar muscular atrophy … Medical dictionary
Health and Disease — ▪ 2009 Introduction Food and Drug Safety. In 2008 the contamination of infant formula and related dairy products with melamine in China led to widespread health problems in children, including urinary problems and possible renal tube… … Universalium
Kennedy disease syndrome — Ken·ne·dy disease, syndrome (kenґə de) [Robert Foster Kennedy, American neurologist, 1884–1952] see spinobulbar muscular atrophy, under atrophy, and see under syndrome … Medical dictionary
Dynamic mutation — In genetics, a dynamic mutation is an unstable heritable element where the probability of expression of a mutant phenotype is a function of the number of copies of the mutation. That is, the replication product of a dynamic mutation has a… … Wikipedia
