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...
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...
Last Updated: November 6, 2022 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...
Last Updated: September 15, 2022 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 atrophin-1 gene. Normal...
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...
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)...
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...
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...
Last Updated: August 25, 2022 Introduction to Friedreich Ataxia Friedreich ataxia (FRDA) is an autosomal recessive disease named for Nicholas Friedreich who, in 1863, described a degenerative atrophy of the posterior columns of the spinal cord that resulted in a...