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Friedreich ataxia

^ http://purl.obolibrary.org/obo/MONDO_0100339

An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty. [ GARD:0006468 ]

Term info

database cross reference
  • MESH:D005621 (Orphanet:95/e)
  • SCTID:10394003 (MONDO:equivalentTo)
  • UMLS:C0016719 (Orphanet:95/e)
  • ICD9:334.0 (MONDO:i2s)
  • MedDRA:10017374 (Orphanet:95/e)
  • GARD:0006468 (MONDO:equivalentTo)
  • NCIT:C84718 (MONDO:equivalentTo)
  • DOID:12705 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

abbreviation
FA [ Orphanet:95 OMIM:229300 ]

abbreviation
FRDA [ MONDO:Lexical Orphanet:95 OMIM:229300 ]

closeMatch

http://identifiers.org/meddra/10017374

created by

https://orcid.org/0000-0001-5208-3432

definition

An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C84718, http://identifiers.org/mesh/D005621, http://purl.obolibrary.org/obo/DOID_12705, http://identifiers.org/snomedct/10394003, http://linkedlifedata.com/resource/umls/id/C0016719

has exact synonym

Friedreich's ataxia, Friedreich's tabes, FRDA, Friedreich ataxia, FA

has related synonym

Friedreich ataxia with retained reflexes, hereditary spinal ataxia, hereditary spinal sclerosis, spinocerebellar ataxia, Friedreich

id

MONDO:0100339

seeAlso

https://rarediseases.info.nih.gov/diseases/6468/friedreich-ataxia