Fragile X-associated tremor/ataxia syndrome
- Synonyms
- Fragile X tremor/ataxia syndrome
- Modes of inheritance
- X-linked dominant inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- References
- Chapter Notes
- Authors:
- Jessica Ezzell Hunter
- Elizabeth Berry-Kravis
- Heather Hipp
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (85 available)
Clinical features
Help- Abnormality of head or neck
- Mask-like facies
Mask-like facies
- MedGen UID: 140860
- Concept ID: C0424448
- Finding: Finding
Abnormality of head or neck
- Mask-like facies
- Abnormality of the endocrine system
- Hypothyroidism
Hypothyroidism
- MedGen UID: 6991
- Concept ID: C0020676
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Hypothyroidism
- Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Saccadic smooth pursuit
Saccadic smooth pursuit
- MedGen UID: 373096
- Concept ID: C1836479
- Finding: Finding
Abnormality of the eye
- Nystagmus
- Abnormality of the genitourinary system
- Impotence
Impotence
- MedGen UID: 1720680
- Concept ID: CN208474
- Finding: Finding
Abnormality of the genitourinary system
- Premature ovarian insufficiency
Premature ovarian insufficiency
- MedGen UID: 9963
- Concept ID: C0025322
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Impotence
- Abnormality of the nervous system
- Action tremor
Action tremor
- MedGen UID: 65875
- Concept ID: C0234376
- Finding: Sign or Symptom
Abnormality of the nervous system
- Anxiety
Anxiety
- MedGen UID: 1613
- Concept ID: C0003467
- Finding: Finding
Abnormality of the nervous system
- Bradykinesia
Bradykinesia
- MedGen UID: 115925
- Concept ID: C0233565
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cerebellar atrophy
Cerebellar atrophy
- MedGen UID: 196624
- Concept ID: C0740279
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Dementia
Dementia
- MedGen UID: 99229
- Concept ID: C0497327
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Depression
Depression
- MedGen UID: 4229
- Concept ID: C0011581
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Diffuse cerebral atrophy
Diffuse cerebral atrophy
- MedGen UID: 108958
- Concept ID: C0598275
- Finding: Finding
Abnormality of the nervous system
- Disinhibition
Disinhibition
- MedGen UID: 633911
- Concept ID: C0474398
- Finding: Finding
Abnormality of the nervous system
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Dysdiadochokinesis
Dysdiadochokinesis
- MedGen UID: 115975
- Concept ID: C0234979
- Finding: Sign or Symptom
Abnormality of the nervous system
- Dysmetria
Dysmetria
- MedGen UID: 68583
- Concept ID: C0234162
- Finding: Finding
Abnormality of the nervous system
- Gait ataxia
Gait ataxia
- MedGen UID: 155642
- Concept ID: C0751837
- Finding: Sign or Symptom
Abnormality of the nervous system
- Hyporeflexia
Hyporeflexia
- MedGen UID: 195967
- Concept ID: C0700078
- Finding: Finding
Abnormality of the nervous system
- Impaired distal vibration sensation
Impaired distal vibration sensation
- MedGen UID: 381262
- Concept ID: C1853767
- Finding: Finding
Abnormality of the nervous system
- Impaired tandem gait
Impaired tandem gait
- MedGen UID: 476998
- Concept ID: C3275367
- Finding: Finding
Abnormality of the nervous system
- Intention tremor
Intention tremor
- MedGen UID: 1642960
- Concept ID: C4551520
- Finding: Sign or Symptom
Abnormality of the nervous system
- Memory impairment
Memory impairment
- MedGen UID: 68579
- Concept ID: C0233794
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Mental deterioration
Mental deterioration
- MedGen UID: 66713
- Concept ID: C0234985
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Obsessive-compulsive trait
Obsessive-compulsive trait
- MedGen UID: 322417
- Concept ID: C1834433
- Finding: Finding
Abnormality of the nervous system
- Parkinsonian disorder
Parkinsonian disorder
- MedGen UID: 66079
- Concept ID: C0242422
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Peripheral neuropathy
Peripheral neuropathy
- MedGen UID: 18386
- Concept ID: C0031117
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Poor fine motor coordination
Poor fine motor coordination
- MedGen UID: 356863
- Concept ID: C1867864
- Finding: Finding
Abnormality of the nervous system
- Postural tremor
Postural tremor
- MedGen UID: 66696
- Concept ID: C0234378
- Finding: Sign or Symptom
Abnormality of the nervous system
- Resting tremor
Resting tremor
- MedGen UID: 66697
- Concept ID: C0234379
- Finding: Sign or Symptom
Abnormality of the nervous system
- Action tremor
- Constitutional symptom
- Bowel incontinence
Bowel incontinence
- MedGen UID: 41977
- Concept ID: C0015732
- Finding: Disease or Syndrome
Constitutional symptom
- Myalgia
Myalgia
- MedGen UID: 68541
- Concept ID: C0231528
- Finding: Sign or Symptom
Constitutional symptom
- Urinary incontinence
Urinary incontinence
- MedGen UID: 22579
- Concept ID: C0042024
- Finding: Finding
Constitutional symptom
- Bowel incontinence
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
- ACMG ACT, 2012American College of Medical Genetics and Genomics Genetic Testing ACT Sheet, Fragile X [FraX] Syndrome, 2012
- EuroGenetest, 2011Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.
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