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Progressive; reduced life expectancy: Frequency: 1 in 50,000 (United States) Deaths: Often due to cardiac complications: Friedreich's ataxia (FRDA) is a rare, ...
Spinocerebellar ataxia (SCA) is a progressive, degenerative, [1] genetic disease with multiple types, each of which could be considered a neurological condition in its own right.
Cerebellar ataxia is a form of ataxia originating in the cerebellum. [1] Non-progressive congenital ataxia (NPCA) is a classical presentation of cerebral ataxias. Cerebellar ataxia can occur as a result of many diseases and may present with symptoms of an inability to coordinate balance, gait, extremity and eye movements. [ 2 ]
Life expectancy 6–12 years after onset of symptoms ... (cerebellar ataxia) found in 22% at first presentation, followed by genito-urinary symptoms (9%): both men ...
Hereditary ataxias, such as Friedreich’s ataxia, are genetic, meaning they are caused by "a defect in a certain gene that is present from the start of a person’s life, inherited from your ...
Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, [1] is a rare, neurodegenerative disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. [2] A–T affects many parts of ...
Machado–Joseph disease (MJD), also known as Machado–Joseph Azorean disease, Machado's disease, Joseph's disease or spinocerebellar ataxia type 3 (SCA3), is a rare autosomal dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia, [1] [2] which results in a lack of muscle control and coordination of the upper and lower extremities. [3]
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder most frequently seen in male premutation carriers of Fragile X syndrome (FXS) over the age of 50. [ 4 ] [ 5 ] The main clinical features of FXTAS include problems of movement with cerebellar gait ataxia and action tremor .
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