Trinucleotide-Repeat Disorders

What are Trinucleotide-Repeat Disorders?

Trinucleotide-repeat disorders are disorders caused by trinucleotide repeat expansion. Examples of trinucleotide-repeat disorders include: Fragile X syndromeFragile X tremor ataxiaHunington’s diseaseMyotonic dystrophySpinobulbar muscular atrophySpinocerebellar ataxiaDentatorubral-pallidoluysian atrophy

What Diseases are Caused by Trinucleotide-Repeats?

X-linked spinal and bulbar muscular atrophy (SBMA) Fragile X syndromes of mental retardation (FRAXA and FRAXE) Myotonic dystrophy Huntington's disease Spinocerebellar ataxia type 1 (SCA1) Dentatorubral-pallidoluysian atrophy (DRPLA) TRDMode of inheritanceRepeats involvedExamples of presentationDentatorubral-pallidoluysian atrophyAutosomal dominantCAG≥49 Chromosome 12Symptom onset is…