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Autosomal recessive cerebellar ataxia

rare

Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.

Identifiers
MONDO:0015244 Orphanet:1172
Part of
Autosomal recessive diseaseHereditary cerebellar ataxia
Also known as
ARCA · cerebellar ataxia, autosomal recessive

Subtypes

All diseases Rare only
Disease Subtypes
  1. Autosomal recessive congenital cerebellar ataxia MONDO:0020043 29
  2. Autosomal recessive degenerative and progressive cerebellar ataxia MONDO:0020046 11
  3. Autosomal recessive metabolic cerebellar ataxia MONDO:0020044 9
  4. Autosomal recessive syndromic cerebellar ataxia MONDO:0020047 7
  5. Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome MONDO:0018446 3
  6. Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy MONDO:0020771 3
  7. Charlevoix-Saguenay spastic ataxia MONDO:0010041 SACS
  8. Lichtenstein-Knorr syndrome MONDO:0014572 SLC9A1
  9. RIDDLE syndrome MONDO:0012764 RNF168
  10. Ataxia with oculomotor apraxia type 3 MONDO:0014084 PIK3R5
  11. Autosomal recessive ataxia due to ubiquinone deficiency MONDO:0012784 COQ8A
  12. Autosomal recessive ataxia, Beauce type MONDO:0012549 SYNE1
  13. Autosomal recessive spinocerebellar ataxia 10 MONDO:0013392 ANO10
  14. Autosomal recessive spinocerebellar ataxia 14 MONDO:0014159 SPTBN2
  15. Autosomal recessive spinocerebellar ataxia 16 MONDO:0014339 STUB1
  16. Autosomal recessive spinocerebellar ataxia 20 MONDO:0014601 SNX14
  17. Autosomal recessive spinocerebellar ataxia 7 MONDO:0012235 TPP1
  18. Infantile-onset autosomal recessive nonprogressive cerebellar ataxia MONDO:0011950
  19. Spinocerebellar ataxia, autosomal recessive 22 MONDO:0014845 VWA3B
  20. Spinocerebellar ataxia, autosomal recessive 24 MONDO:0014934 UBA5
  21. Spinocerebellar ataxia, autosomal recessive 25 MONDO:0033115
  22. Spinocerebellar ataxia, autosomal recessive 26 MONDO:0033116
  23. Spinocerebellar ataxia, autosomal recessive 27 MONDO:0032706 GDAP2
  24. Spinocerebellar ataxia, autosomal recessive 28 MONDO:0032923
  25. Spinocerebellar ataxia, autosomal recessive 29 MONDO:0030312 VPS41
  26. Spinocerebellar ataxia, autosomal recessive 30 MONDO:0030318 PITRM1
  27. Spinocerebellar ataxia, autosomal recessive 31 MONDO:0030323 ATG7
  28. Spinocerebellar ataxia, autosomal recessive 32 MONDO:0859245 PRDX3
  29. Spinocerebellar ataxia, autosomal recessive 33 MONDO:0859360

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