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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 ...
The average lifespan after the onset of symptoms in patients with MSA is 6–10 years. [4] Approximately 60% of patients require a wheelchair within five years of onset of the motor symptoms, and few patients survive beyond 12 years. [4] The disease progresses without remission at a variable rate.
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 ...
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive late-onset heredodegenerative multisystem neurological disease. The symptoms include poor balance and difficulty walking. Chronic cough and difficulty swallowing may also be present.
Da Costa's syndrome, also known as soldier's heart among other names, was a syndrome or a set of symptoms similar to those of heart disease. These include fatigue upon exertion, shortness of breath , palpitations , sweating , chest pain , and sometimes orthostatic intolerance .
Schwartz–Jampel syndrome (SJS, also known as chondrodystrophic myotonia) is a rare genetic disease caused by a mutation in the perlecan gene (HSPG2) [1] which causes osteochondrodysplasia associated with myotonia. [2] Most people with Schwartz–Jampel syndrome have a nearly normal life expectancy. [3]
Usually, the first respiratory symptoms are shortness of breath and paradoxical respirations which then escalate within the first few months of life to diaphragmatic paralysis. [2] The symptoms of diaphragmatic paralysis come on very rapidly and without warning, and the patient is often rushed to a hospital where they are placed on a ventilator ...