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...
Diseases and Disorders, Diseases Associated with DNA Abnormalities, Trinucleotide Repeat Disorders
Last Updated: May 20, 2024 Triplet Expansion Disorders The trinucleotide repeat disorders (also known as trinucleotide repeat expansion disorders or triplet repeat expansion disorders) represent a family of genetic disorders caused by an increase in the number of...