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Jordan's syndrome (JS) or PPP2R5D-related intellectual disability is a rare autosomal dominant neurodevelopmental disorder caused by de novo mutations in the PPP2R5D gene. [2] Children with JS may also have epilepsy or meet criteria for diagnosis with autism spectrum disorder .
Seasonal affective disorder (SAD) is a mood disorder subset in which people who typically have normal mental health throughout most of the year exhibit depressive symptoms at the same time each year. [ 1 ] [ 2 ] It is commonly, but not always, associated with the reductions or increases in total daily sunlight hours that occur during the winter ...
Adenylosuccinate lyase deficiency is responsible for a range of symptoms that involve psychomotor retardation, often accompanied by epileptic seizures, and autistic features. Two common theories were proposed to account for these effects, the first is that they result from decreased concentrations of purine nucleotides needed for purine ...
Sudden death of a young person can be caused by heart disease (including cardiomyopathy, congenital heart disease, myocarditis, genetic connective tissue disorders) or conduction disease (WPW syndrome, etc.), medication-related causes or other causes. [13]
In 2022 tests at Liverpool's Alder Hey Hospital revealed what was wrong. Laura said: "I had come across Batten Disease on the internet but didn't really think that Anna had such a terrible condition."
Stiff-person syndrome, aka Moersch-Woltman syndrome, is a neurological disorder that can cause symptoms such as stiffening in the muscles of the trunk, along with stiffness and rigidity in the ...
Salla disease (SD) or mild Free Sialic Acid Storage Disease (FSASD) is an autosomal recessive [2] lysosomal storage disease characterized by early physical impairment and intellectual disability. Salla disease (also referred to as Finnish-type sialuria , OMIM#604369) was first reported as a lysosomal storage disorder in a family from northern ...
Kleefstra syndrome affects males and females equally and approximately 75% of all documented cases are caused by Eu-HMTase1 disruptions while only 25% are caused by 9q34.3 deletions. [3] There are no statistics on the effect the disease has on life expectancy due to the lack of information available. [3]