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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 ...
Friedreich's ataxia; Spinocerebellar ataxia, Friedreich 229300: Disease ID 6468 at NIH's Office of Rare Diseases: Infantile onset Spinocerebellar ataxia 605361: Disease ID 4062 at NIH's Office of Rare Diseases: Spinocerebellar ataxia 1 164400: Disease ID 4071 at NIH's Office of Rare Diseases: Spinocerebellar ataxia 2 183090
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]
Several spinocerebellar ataxias; Huntington's disease – CAG; Myotonic dystrophy – CTG; Dyskeratosis congenita – TTAGGG (telomere repeat sequence) [1] Autosomal recessive. Friedreich ataxia – GAA (Note: Friedreich ataxia does not usually exhibit anticipation because it is an autosomal recessive disorder. [2]) X-linked. Fragile X syndrome ...
4 - 34: 35 - 72 SCA1 (Spinocerebellar ataxia Type 1) ATXN1: 6 - 35: 49 - 88 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
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]
Spinocerebellar ataxia type 15 has been classified as an ADCA Type III as it has been noted to have postural and action tremor in addition to cerebellar ataxia. [4] Additionally, spinocerebellar ataxia type 20 (SCA20) is organized in ADCA III that often exhibits disease-like symptoms at an earlier age, sometime starting at fourteen years old ...