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Persons who have been diagnosed with autosomal dominant spinocerebellar ataxia (SCAs) also exhibit dysmetria. [4] There are many types of SCAs and though many exhibit similar symptoms (one being dysmetria), they are considered to be heterogeneous. [4] Friedreich's ataxia is a relatively common cause of dysmetria. [5]
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 ]
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.
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]
Rarely, anhidrosis might also occur alongside these symptoms. [9] [8] [11] [10] After these symptoms start, movement impairments develop; they start off at the legs but then progress and move to the arms and the face, these impairments include either muscular spasticity or weakness, intention tremors, ataxia, dysmetria, and dysdiadochokinesis.
Some patients report bladder and bowel symptoms. [4] Advanced stages of disease are associated with supraventricular tachyarrhythmias, most commonly atrial fibrillation. [1] Other later stage symptoms can include, cerebellar effects such as nystagmus, fast saccadic eye movements, dysmetria and loss of coordination (truncal ataxia, and stomping ...
The genes that underlie majority of the symptoms for the different types of ataxia are still unknown. A productive cure is still unavailable to prevent the brain degeneration associated with ataxia. [6] Oculomotor ataxia accompanies gait ataxia which causes dysarthria, muscle weakness, loss of joint position sense and limb dysmetria.
As a result of this gait impairment, falling is a concern in patients with ataxia. [3] Truncal ataxia affects the muscles closer to the body such as the trunk, shoulder girdle and hip girdle. It is involved in gait stability. [3] Truncal ataxia is different from appendicular ataxia. Appendicular ataxia affects the movements of the arms and legs.