Category: Database: Disease
Oculopharyngeal Muscular Dystrophy
Oculopharyngeal muscular dystrophy (OPMD) is a rare, adult-onset genetic disorder characterized by progressive muscle weakness that primarily affects the muscles…
Spinocerebellar Ataxia
Spinocerebellar ataxias (SCAs) are a diverse group of hereditary, progressive neurodegenerative disorders primarily affecting the cerebellum and its connections, leading…
Myotonic Dystrophy
Myotonic dystrophy (DM) is a multisystemic, inherited neuromuscular disorder and the most common form of adult-onset muscular dystrophy. It is…
Fragile X Syndrome
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and a leading single-gene cause of autism…
Trinucleotide Repeat Disorder
A trinucleotide repeat disorder is a type of genetic condition caused by an abnormal expansion of a sequence of three…
Polyalanine Tract Disorder
A polyalanine tract disorder refers to a group of genetic conditions caused by abnormal expansions of polyalanine (polyA) tracts within…
Hand–Foot–Genital Syndrome
Hand–Foot–Genital Syndrome is a rare genetic disorder characterized by congenital malformations affecting the limbs and the genitourinary tract. It belongs…
Polyglutamine Disease
Polyglutamine (polyQ) diseases are a group of inherited neurodegenerative disorders caused by abnormal expansions of CAG trinucleotide repeats in specific…
Polyglutamine Tract
Polyglutamine (polyQ) tracts are stretches of multiple glutamine amino acids repeated in sequence within proteins. These regions are encoded by…
Chorea
Chorea is a neurological movement disorder characterized by brief, irregular, involuntary movements that appear to flow from one muscle to…
Developmental Language Disorder
Developmental Language Disorder (DLD) is a significant condition that affects language acquisition and use, persisting into adolescence and adulthood. It…
Dyslexia
Dyslexia is a specific learning disorder that primarily affects the skills involved in accurate and fluent reading and spelling. It…
Agraphia
Agraphia is a neurological condition characterized by the complete or partial loss of the ability to write, despite having previously…
Dysgraphia
Dysgraphia is a neurological learning disorder that affects a person’s ability to write coherently, impacting handwriting, spelling, and the ability…
Paragraphia
Paragraphia is a written language disorder characterized by the impairment of writing abilities, where individuals make specific types of errors…