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X-linked spinocerebellar ataxia type 3

MedGen UID:
337124
•Concept ID:
C1844936
•
Disease or Syndrome
Synonym: Ataxia-deafness syndrome X-linked
SNOMED CT: X-linked spinocerebellar ataxia type 3 (719817002); X-linked ataxia deafness syndrome (719817002)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0010529
OMIM®: 301790
Orphanet: ORPHA85297

Definition

This syndrome is a form of spinocerebellar degeneration with onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia and optic atrophy and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVX-linked spinocerebellar ataxia type 3
Follow this link to review classifications for X-linked spinocerebellar ataxia type 3 in Orphanet.

Recent clinical studies

Etiology

Polyglutamine (PolyQ) diseases: genetics to treatments.
Fan HC, Ho LI, Chi CS, Chen SJ, Peng GS, Chan TM, Lin SZ, Harn HJ
Cell Transplant 2014;23(4-5):441-58. doi: 10.3727/096368914X678454. PMID: 24816443
Machado-Joseph disease and other rare spinocerebellar ataxias.
Matilla-Dueñas A
Adv Exp Med Biol 2012;724:172-88. doi: 10.1007/978-1-4614-0653-2_14. PMID: 22411243
Hereditary ataxias.
Evidente VG, Gwinn-Hardy KA, Caviness JN, Gilman S
Mayo Clin Proc 2000 May;75(5):475-90. doi: 10.4065/75.5.475. PMID: 10807077
Molecular genetics of hereditary ataxias.
Banfi S, Zoghbi HY
Baillieres Clin Neurol 1994 Aug;3(2):281-95. PMID: 7952848

Diagnosis

Machado-Joseph disease and other rare spinocerebellar ataxias.
Matilla-Dueñas A
Adv Exp Med Biol 2012;724:172-88. doi: 10.1007/978-1-4614-0653-2_14. PMID: 22411243
Hereditary ataxias.
Evidente VG, Gwinn-Hardy KA, Caviness JN, Gilman S
Mayo Clin Proc 2000 May;75(5):475-90. doi: 10.4065/75.5.475. PMID: 10807077
Molecular genetics of hereditary ataxias.
Banfi S, Zoghbi HY
Baillieres Clin Neurol 1994 Aug;3(2):281-95. PMID: 7952848

Prognosis

Machado-Joseph disease and other rare spinocerebellar ataxias.
Matilla-Dueñas A
Adv Exp Med Biol 2012;724:172-88. doi: 10.1007/978-1-4614-0653-2_14. PMID: 22411243

Clinical prediction guides

Molecular genetics of hereditary ataxias.
Banfi S, Zoghbi HY
Baillieres Clin Neurol 1994 Aug;3(2):281-95. PMID: 7952848

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