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Friedreich's ataxia (FRDA) is a rare, inherited, autosomal recessive neurodegenerative disorder that primarily affects the nervous system, causing progressive damage to the spinal cord, peripheral nerves, and cerebellum, leading to impaired muscle coordination . The condition typically manifests in childhood or adolescence, with initial ...
There are five typical autosomal-recessive disorders in which ataxia is a prominent feature: Friedreich ataxia, ataxia-telangiectasia, ataxia with vitamin E deficiency, ataxia with oculomotor apraxia (AOA), spastic ataxia. Disorder subdivisions: Friedreich's ataxia, spinocerebellar ataxia, ataxia telangiectasia, vasomotor ataxia ...
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]
The ICARS has been validated for use in patients with focal cerebellar lesions [1] and hereditary spinocerebellar and Friedrich's ataxia. [2] [3] More recently, two shorter ataxia scales based upon the ICARS have been created and validated, the Scale for the Assessment and Rating of Ataxia (SARA) [4] and the Brief Ataxia Rating Scale (BARS). [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.
SCA2 (Spinocerebellar ataxia Type 2) ATXN2: 14 - 32: 33 - 77 SCA3 (Spinocerebellar ataxia Type 3 or Machado-Joseph disease) ATXN3: 12 - 40: 55 - 86 SCA6 (Spinocerebellar ataxia Type 6) CACNA1A: 4 - 18: 21 - 30 SCA7 (Spinocerebellar ataxia Type 7) ATXN7: 7 - 17: 38 - 120 SCA17 (Spinocerebellar ataxia Type 17) TBP: 25 - 42: 47 - 63
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]
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