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: March 3, 2023 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: March 3, 2023 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. The...