Diseases and Disorders, Diseases Associated with DNA Abnormalities, Trinucleotide Repeat Disorders
Last Updated: January 10, 2025 Introduction to Dentatorubral-Pallidoluysian Atrophy Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive neurodegenerative disease resulting from the expansion of a CAG trinucleotide repeat in the gene (ATN1) encoding the...
Diseases and Disorders, Diseases Associated with DNA Abnormalities, Trinucleotide Repeat Disorders
Last Updated: October 31, 2025 Introduction to Spinobulbar Muscular Atrophy Spinobulbar muscular atrophy (SBMA) is an adult onset, slowly progressive motor neuropathy that results from the expansion of a CAG trinucleotide repeat in exon 1 of the androgen receptor (AR)...
Diseases and Disorders, Diseases Associated with DNA Abnormalities, Trinucleotide Repeat Disorders
Last Updated: October 31, 2025 Introduction to Huntington Disease Huntington disease is inherited as an autosomal dominant disorder characterized by slowly progressive neurodegeneration associated with choreic movements (abnormal involuntary movements) and dementia....