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X-linked non progressive cerebellar ataxia(SCAX5)

MedGen UID:: 394718
•Concept ID:: C2678048
•: Disease or Syndrome

Synonym:	Spinocerebellar ataxia, X-linked 5
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:0010404
OMIM®:	300703
Orphanet:	ORPHA314978

Definition

X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems. [from ORDO]

Clinical features

From HPO

Cerebellar ataxia

MedGen UID:: 849
•Concept ID:: C0007758
•: Disease or Syndrome

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).

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Dysarthria

MedGen UID:: 8510
•Concept ID:: C0013362
•: Mental or Behavioral Dysfunction

Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.

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Action tremor

MedGen UID:: 65875
•Concept ID:: C0234376
•: Sign or Symptom

A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.

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Motor delay

MedGen UID:: 381392
•Concept ID:: C1854301
•: Finding

A type of Developmental delay characterized by a delay in acquiring motor skills.

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Neonatal hypotonia

MedGen UID:: 412209
•Concept ID:: C2267233
•: Disease or Syndrome

Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.

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Nystagmus

MedGen UID:: 45166
•Concept ID:: C0028738
•: Disease or Syndrome

Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.

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Abnormality of the eye
- Nystagmus
Abnormality of the musculoskeletal system
- Neonatal hypotonia
Abnormality of the nervous system

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVX-linked non progressive cerebellar ataxia

X-linked cerebellar ataxia
- X-linked non progressive cerebellar ataxia

Follow this link to review classifications for X-linked non progressive cerebellar ataxia in Orphanet.

Recent clinical studies

Etiology

Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype.

Hsu SL, Chen YH, Chou CT, Chou YT, Tsai YS, Hsiao CT, Liao YC, Lee YC
Parkinsonism Relat Disord 2021 Nov;92:7-12. Epub 2021 Oct 9 doi: 10.1016/j.parkreldis.2021.10.006. PMID: 34649108

A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect.

Vicario M, Calì T, Cieri D, Vallese F, Bortolotto R, Lopreiato R, Zonta F, Nardella M, Micalizzi A, Lefeber DJ, Valente EM, Bertini E, Zanotti G, Zanni G, Brini M, Carafoli E
Biochim Biophys Acta Mol Basis Dis 2017 Dec;1863(12):3303-3312. Epub 2017 Aug 12 doi: 10.1016/j.bbadis.2017.08.006. PMID: 28807751

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

See all (3)

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

See all (1)

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

Cerebellar vermis aplasia: patient report and exclusion of the candidate genes EN2 and ZIC1.

Titomanlio L, Pierri NB, Romano A, Imperati F, Borrelli M, Barletta V, Diano AA, Castaldo I, Santoro L, Del Giudice E
Am J Med Genet A 2005 Jul 15;136(2):198-200. doi: 10.1002/ajmg.a.30795. PMID: 15940696

Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).

Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM
Hum Mol Genet 1999 May;8(5):743-9. doi: 10.1093/hmg/8.5.743. PMID: 10196363

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Clinical prediction guides

Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).

Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM
Hum Mol Genet 1999 May;8(5):743-9. doi: 10.1093/hmg/8.5.743. PMID: 10196363

See all (1)

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X-linked non progressive cerebellar ataxia(SCAX5)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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