Autosomal dominant cerebellar ataxia

Autosomal dominant cerebellar ataxia
Other namesAutosomal dominant spinocerebellar ataxia[1]
Autosomal Dominance
Autosomal dominant is the manner in which this condition is inherited
SymptomsMulti system involvement[2]
TypesADCS type1, ADCA type 2, ADCA type 3[2]
Diagnostic methodMRI, CT scan[3]
TreatmentAnticonvulsants may be used[2]

Autosomal dominant cerebellar ataxia (ADCA) is a form of spinocerebellar ataxia inherited in an autosomal dominant manner. ADCA is a genetically inherited condition that causes deterioration of the nervous system leading to disorder and a decrease or loss of function to regions of the body.[2]

Degeneration occurs at the cellular level and in certain subtypes results in cellular death. Cellular death or dysfunction causes a break or faulty signal in the line of communication from the central nervous system to target muscles in the body. When there is impaired communication or a lack of communication entirely, the muscles in the body do not function correctly. Muscle control complications can be observed in multiple balance, speech, and motor or movement impairment symptoms. ADCA is divided into three types and further subdivided into subtypes known as SCAs (spinocerebellar ataxias).[4]

  1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Autosomal dominant cerebellar ataxia". www.orpha.net. Archived from the original on 31 August 2019. Retrieved 8 August 2019.{{cite web}}: CS1 maint: numeric names: authors list (link)
  2. ^ a b c d "Autosomal Dominant Cerebellar Ataxia information page. Patient | Patient". Patient. Archived from the original on 2021-08-13. Retrieved 2016-03-25.
  3. ^ Cite error: The named reference orphan was invoked but never defined (see the help page).
  4. ^ Whaley, Nathaniel; Fujioka, Shinsuke; Wszolek, Zbigniew K (1 January 2011). "Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics". Orphanet Journal of Rare Diseases. 6 (1): 33. doi:10.1186/1750-1172-6-33. PMC 3123548. PMID 21619691.