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1 OMIM reference -
1 associated gene
29 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Fragile X-associated tremor/ataxia syndrome
Muscular dystrophy, Selcen type

FMR1 BAG3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FMR1
(0.63)
BAG3



Citations in the biomedical literature:


Fragile X-associated tremor/ataxia syndrome
FMR1
Muscular dystrophy, Selcen type
BAG3



Fragile X-associated tremor/ataxia syndrome
Muscular dystrophy, Selcen type

Synonym(s):
- FXTAS syndrome

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
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
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Fragile X-associated tremor/ataxia syndrome

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


Muscular dystrophy, Selcen type

(no data available)