Friedreich Ataxia malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 31ICD9CM, 36MedGen, 37MedlinePlus, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 48NINDS, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
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Aliases & Descriptions for Friedreich Ataxia:
Orphanet epidemiological data:53
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (France),1-9/100000 (Italy),1-9/1000000 (Finland); Age of onset: Adolescent,Childhood; Age of death: adult
Penetrance: penetrance is complete in homozygotes with both alleles having full-penetrance gaa repeat expansions and in compound heterozygotes for a full-penetrance gaa expansion in one allele and a fxn pathogenic variant in the other allele. however, because of wide variability in the size of pathogenic expanded alleles, and for other unknown reasons, onset can range from before age five years to older than age 50 years. this variability in age-dependent penetrance can occasionally occur within the same sibship...
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases
NINDS:48 Friedreich's ataxia is a rare inherited disease that causes progressive damage to the nervous system and movement problems. Neurological symptoms include awkward, unsteady movements, impaired sensory function, speech problems, and vision and hearing loss. Thinking and reasoning abilities are not affected.Impaired muscle coordination (ataxia) results from the degeneration of nerve tissue in the spinal cord and of nerves that control muscle movement in the arms and legs. Symptoms usually begin between the ages of 5 and 15 but can appear in adulthood or later. The first symptom is usually difficulty in walking. The ataxia gradually worsens and slowly spreads to the arms and then the trunk. People lave loss of sensation in the arms and legs, which may spread to other parts of the body. Many people with Friedreich's ataxia develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing. Other symptoms include chest pain, shortness of breath, and heart problems. Some individuals may develop diabetes.
MalaCards based summary: Friedreich Ataxia, also known as friedreich's ataxia, is related to friedreich ataxia 2 and fas-related autoimmune lymphoproliferative syndrome, and has symptoms including visual impairment, reduced visual acuity and nystagmus. An important gene associated with Friedreich Ataxia is FXN (Frataxin), and among its related pathways are Iron metabolism in placenta and Mitochondrial iron-sulfur cluster biogenesis. Affiliated tissues include heart, spinal cord and eye.
Genetics Home Reference:25 Friedreich ataxia is a genetic 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 of this condition include the gradual loss of strength and sensation in the arms and legs; muscle stiffness (spasticity); and impaired speech, hearing, and vision. Individuals with Friedreich ataxia often have a form of heart disease called hypertrophic cardiomyopathy, which enlarges and weakens the heart muscle and can be life-threatening. Some affected individuals develop diabetes or an abnormal curvature of the spine (scoliosis).
NIH Rare Diseases:47 Friedreich ataxia is 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. This condition is caused by mutations in the FXN gene and is inherited in an autosomal recessive pattern. Last updated: 5/22/2015
OMIM:51 Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb... (229300) more...
MedlinePlus:37 Friedreich's ataxia is an inherited disease that damages your nervous system. the damage affects your spinal cord and the nerves that control muscle movement in your arms and legs. symptoms usually begin between the ages of 5 and 15. the main symptom is ataxia, which means trouble coordinating movements. specific symptoms include difficulty walking muscle weakness speech problems involuntary eye movements scoliosis (curving of the spine to one side) heart palpitations, from the heart disease which can happen along with friedreich's ataxia people with friedreich's ataxia usually need a wheelchair 15 to 20 years after symptoms first appear. in severe cases, people become incapacitated. there is no cure. you can treat symptoms with medicines, braces, surgery, and physical therapy. nih: national institute of neurological disorders and stroke
UniProtKB/Swiss-Prot:69 Friedreich ataxia: Autosomal recessive, progressive degenerative disease characterized by neurodegeneration and cardiomyopathy it is the most common inherited ataxia. The disorder is usually manifest before adolescence and is generally characterized by incoordination of limb movements, dysarthria, nystagmus, diminished or absent tendon reflexes, Babinski sign, impairment of position and vibratory senses, scoliosis, pes cavus, and hammer toe. In most patients, FRDA is due to GAA triplet repeat expansions in the first intron of the frataxin gene. But in some cases the disease is due to mutations in the coding region.
GeneReviews for NBK1281
Human phenotypes related to Friedreich Ataxia:63 (show all 25)
UMLS symptoms related to Friedreich Ataxia:gait deviation, cerebellar ataxia/dyskinesia, trendelenburg's symptom, sleeplessness, equilibration disorder, loss of control of walking, abnormal coordination, vertigo/dizziness, difficulty standing, chronic pain, tremor, syncope, seizures, sciatica, pain, myoclonus, headache, cerebellar ataxia, back pain, ataxia
Drugs for Friedreich Ataxia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 108)
Interventional clinical trials:(show all 49)
Search NIH Clinical Center for Friedreich Ataxia
MalaCards organs/tissues related to Friedreich Ataxia:35
Heart, Spinal cord, Eye, Testes, Brain, Skeletal muscle, Liver
Articles related to Friedreich Ataxia:(show top 50) (show all 458)
UniProtKB/Swiss-Prot genetic disease variations for Friedreich Ataxia:69
Clinvar genetic disease variations for Friedreich Ataxia:5
Search GEO for disease gene expression data for Friedreich Ataxia.
Cellular components related to Friedreich Ataxia according to GeneCards Suite gene sharing:
Biological processes related to Friedreich Ataxia according to GeneCards Suite gene sharing:(show all 10)
Molecular functions related to Friedreich Ataxia according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet