Diseases and Disorders, Diseases Associated with DNA Abnormalities, Trinucleotide Repeat Disorders
Last Updated: September 25, 2024 Introduction to Myotonic Dystrophy Type 1 myotonic dystrophy (originally abbreviated DM1 for the Latin dystrophia myotonica) is the most commonly occurring form of muscular dystrophy in adults. The disease manifests in nearly 1 in...
Diseases and Disorders, Diseases Associated with DNA Abnormalities, Trinucleotide Repeat Disorders
Last Updated: September 15, 2022 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...
Diseases and Disorders, Diseases Associated with DNA Abnormalities, Trinucleotide Repeat Disorders
Last Updated: January 17, 2025 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...
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: May 15, 2024 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...
