Diseases and Disorders, Diseases Associated with DNA Abnormalities, Trinucleotide Repeat Disorders
Last Updated: July 30, 2026 Introduction to Myotonic Dystrophy There are two major genetic forms of myotonic dystrophy, type 1 and type 2 (proximal myotonic myopathy). Both forms are the result of the acquisition of pathogenic expansion of nucleotide repeats. Type 1...
Diseases and Disorders, Diseases Associated with DNA Abnormalities, Trinucleotide Repeat Disorders
Last Updated: July 30, 2026 Introduction to Fragile XE Syndrome Fragile XE syndrome (previously referred to as fragile XE mental retardation) is an X-linked dominant disorder that is defined by patients who have the cytogenetic changes associated with fragile X...
Diseases and Disorders, Diseases Associated with DNA Abnormalities, Trinucleotide Repeat Disorders
Last Updated: July 30, 2026 Introduction to Fragile X Syndrome Fragile X syndrome is an X-linked dominant disorder representing the most common form of inherited intellectual impairment. Fragile X syndrome occurs with a frequency of approximately 1 in 4000 males and 1...
Diseases and Disorders, Diseases Associated with DNA Abnormalities, Trinucleotide Repeat Disorders
Last Updated: July 30, 2026 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 protein...
Diseases and Disorders, Diseases Associated with DNA Abnormalities, Trinucleotide Repeat Disorders
Last Updated: July 30, 2026 Introduction to the Spinocerebellar Ataxias The spinocerebellar ataxias (SCA) represent a group of autosomal dominant neurological disorders characterized by variable degrees of degeneration in the cerebellum, spinocerebellar tracts, and...
