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Spinocerebellar ataxia 1 164400: Disease ID 4071 at NIH's Office of Rare Diseases: Spinocerebellar ataxia 2 183090: Disease ID 4072 at NIH's Office of Rare Diseases: Spinocerebellar ataxia 3; Machado Joseph disease 109150: Disease ID 6801 at NIH's Office of Rare Diseases: Spinocerebellar ataxia 4 600223: Disease ID 9970 at NIH's Office of Rare ...
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]
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 ...
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]
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
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 ]
Longer expansions can cause spinocerebellar ataxia type 2 (SCA2), a fatal progressive genetic disorder in which neurons degenerate in the cerebellum, inferior olive, pons, and other areas. Symptoms of SCA2 include ataxia (a loss of coordinated movements), parkinsonism, and dementia in some cases. [11]
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]