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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 .
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 ...
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 ]
The symptoms of an ataxia vary with the specific type and with the individual patient. Many subtypes of spinocerebellar ataxia result in cases where an individual retains full mental capacity but progressively loses physical control, but nearly half of the identified subtypes result in cognitive dysfunction, dementia, and mental retardation. [7]
The symptoms include poor balance and difficulty walking. Chronic cough and difficulty swallowing may also be present. Clinical findings include ataxia, sensory neuropathy, and absence of the vestibulo-ocular reflex. The syndrome was initially described in 2004. [1]
Ataxia (from Greek α- [a negative prefix] + -τάξις [order] = "lack of order") is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements, that indicates dysfunction of parts of the nervous system that coordinate movement, such as the cerebellum.
Sensory neuronopathy (also known as sensory ganglionopathy) is a type of peripheral neuropathy that results primarily in sensory symptoms (such as parasthesias, pain or ataxia) due to destruction of nerve cell bodies in the dorsal root ganglion. [1]
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