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Fragile X-associated tremor/ataxia syndrome
1 OMIM reference -
1 associated gene
16 connected diseases
29 signs/symptoms
Disease Type of connection
Fragile X syndrome
Xq27.3q28 duplication syndrome
Angelman syndrome
Estrogen resistance syndrome
Herpetic encephalitis
Richieri Costa-Pereira syndrome
17q11 microdeletion syndrome
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Familial isolated dilated cardiomyopathy
Isolated Klippel-Feil syndrome
Muscular dystrophy, Selcen type
Spondylocarpotarsal synostosis
Spondylometaphyseal dysplasia - cone-rod dystrophy
Synonym(s):
- FXTAS syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: x-linked dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
FMR1 Q06787309550
Very frequent
- Abnormal gait
- Ataxia / incoordination / trouble of the equilibrium
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Elocution disorders / dysarthria / dysphonia
- Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia
- Fragile chromosome X site
- Psychic / psychomotor regression / dementia / intellectual decline
- Tremor
- Troubles of memory / amnesia / hypermnesia
- X-linked dominant inheritance

Frequent
- Areflexia / hyporeflexia
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Dysautonomia / autonomous nervous sytem anomalies
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Hypertonia / spasticity / rigidity / stiffness
- Impotence / painful erection / priapism / erection troubles
- Muscle weakness / flaccidity
- Obsessive-compulsive disorder
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Peripheral neuropathy
- Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria
- Sphincter dysfunction

Occasional
- Chronic arterial hypertension
- Encopresis / fecal incontinence
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hypotension
- Hypothyroidy
- Midbrain / brainstem / pons / medulla anomalies
- Myalgia / muscular pain