raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:95

Friedreich ataxia

Synonyms: FA · FRDA

Type
Disease
Group
Disorder
Inheritance
Autosomal recessive
Age of onset
Adolescent, Childhood
Status
active

Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enFriedreich ataxiaFA · FRDA
frAtaxie de FriedreichAF · FRDA
deFriedreich-AtaxieFA · FRDA · Friedreichsche Ataxie
esAtaxia de Friedreich= en
itAtassia di Friedreich= en
nlAtaxie van Friedreich= en
ptAtaxia de Friedreich
plAtaksja Friedreicha= en
csFRDAFA · Friedreichova ataxie
ukАтаксія Фрідрейха= en
zh弗里德赖希共济失调FRDA
trFriedreich ataksisi= en

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM229300Evalidated
OMIM601992BTNTvalidated
ICD-10G11.1NTBTinclusionvalidated
ICD-118A03.10Especificvalidated
MONDO0100339Evalidated
MONDO100339Evalidated
MeSHD005621Evalidated
UMLSC0016719Evalidated
GARD6468Evalidated
MedDRA10017374Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (6):

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
FXNDisease-causing germline mutation(s) (loss of function) inAssessedHGNC:3951ENSG000001650606068299q21.11frataxin21776984[PMID]
5

Prevalence and incidence

17 records
TypeClassValueAreaQualificationValidationSource
Point prevalence1-9 / 1 000 0000.9 / 100 000GreeceValue and classValidated24209901[PMID]
Point prevalence1-9 / 100 0002 / 100 000EuropeValue and classValidated20301458[PMID]_23859338[PMID]
Point prevalence1-9 / 100 0002.3 / 100 000FranceValue and classValidated9207112 [PMID]_23859338[PMID]
Prevalence at birth1-9 / 100 0002.8 / 100 000ItalyValue and classValidated2225525[PMID]_7793232[PMID]
Point prevalence1-9 / 100 0001.1 / 100 000ItalyValue and classValidated2225525[PMID]_7793232[PMID]
Prevalence at birth1-9 / 100 0006.2 / 100 000SpainValue and classValidated2043954[PMID]_7898602[PMID]
Point prevalence1-9 / 100 0004.3 / 100 000SpainValue and classNot yet validated2043954[PMID]_7898602[PMID]
Prevalence at birth1-9 / 100 0001 / 100 000FinlandValue and classValidated11810294[PMID]
Point prevalence1-9 / 1 000 0000.13 / 100 000FinlandValue and classValidated11810294[PMID]_23859338[PMID]
Point prevalence1-9 / 1 000 0000.7 / 100 000DenmarkValue and classNot yet validated2096315[PMID]
Point prevalence1-9 / 1 000 0000.9 / 100 000PortugalValue and classValidated23609960[PMID]
Point prevalence1-9 / 100 0001.8 / 100 000United KingdomValue and classValidated19347027[PMID]
Point prevalence1-9 / 100 0001 / 100 000NorwayValue and classValidated1126051[PMID]
Point prevalence1-9 / 100 0002.1 / 100 000GermanyValue and classValidated9187683[PMID]_23859338[PMID]
Point prevalence1-9 / 1 000 0000.24 / 100 000SwedenValue and classValidated11810294[PMID]_23859338[PMID]
Point prevalence1-9 / 1 000 0000.27 / 100 000Czech RepublicValue and classValidated15726025[PMID]_23859338[PMID]
Point prevalence1-9 / 100 0003.03 / 100 000Russian FederationValue and classValidated15559155[PMID]_23859338[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

53 annotations · validated 2024-03-25
HPOTerm (as annotated by Orphanet)Diagnostic
Obligate (100%)
HP:0002066Gait ataxia
Very frequent (99-80%)
HP:0003487Babinski sign
HP:0001260Dysarthria
HP:0002141Gait imbalance
HP:0009130Hand muscle atrophy
HP:0010831Impaired proprioception
HP:0002070Limb ataxia
Frequent (79-30%)
HP:0003115Abnormal EKG
HP:0001760Abnormal foot morphology
HP:0000570Abnormal saccadic eye movements
HP:0012079Abnormality of central motor conduction
HP:0002270Abnormality of the autonomic nervous system
HP:0001063Acrocyanosis
HP:0002522Areflexia of lower limbs
HP:0001638Cardiomyopathy
HP:0010873Cervical spinal cord atrophy
HP:0002312Clumsiness
HP:0001310Dysmetria
HP:0002527Falls
HP:0002495Impaired vibratory sensation
HP:0030183Impaired visually enhanced vestibulo-ocular reflex
HP:0002037Inflammation of the large intestine
HP:0002080Intention tremor
HP:0003394Muscle spasm
HP:0001324Muscle weakness
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0001761Pes cavus
HP:0007010Poor fine motor coordination
HP:0012452Restless legs
HP:0002650Scoliosis
HP:0003390Sensory axonal neuropathy
HP:0001762Talipes equinovarus
HP:0002839Urinary bladder sphincter dysfunction
HP:0000012Urinary urgency
Occasional (29-5%)
HP:0000739Anxiety
HP:0001272Cerebellar atrophy
HP:0003431Decreased motor nerve conduction velocity
HP:0000716Depression
HP:0000819Diabetes mellitus
HP:0002075Dysdiadochokinesis
HP:0002015Dysphagia
HP:0001618Dysphonia
HP:0001332Dystonia
HP:0000365Hearing impairment
HP:0002540Inability to walk
HP:0002546Incomprehensible speech
HP:0004349Reduced bone mineral density
HP:0007663Reduced visual acuity
HP:0010535Sleep apnea
HP:0001257Spasticity
HP:0025402Square-wave jerks
Very rare (<4-1%)
HP:0002072Chorea

Run the differential on the 7 obligate / very frequent terms

Annotation source: 29053830[PMID]_35766110[PMID]_20301458[PMID]_10633128[PMID]_18852343[PMID]_8149209[PMID]

7

Sources for this card