friedreich's ataxia…

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central nervous system, spinocerebellar degeneration, friedreich's ataxia, frda, rare inherited disease, two main features of this disorder, progressive loss of voluntary muscular coordination, ataxia, heart enlargement, diagnosis, made between ages 8, most by age 25, friedreich's ataxia, autosomal recessive genetic disorder, meaning the affected individual must inherit two altered genes, mother, father, a gene, frataxin, fxn, located on chromosome 9, involved, in the gene result in many extra copies of a dna segment, a trinucleotide repeat, gaa, individuals, friedreich ataxia have anywhere from 8 to 30 copies of this gaa segment, individuals, frda have, 1,000 copies, copies of gaa the individual has, earlier the onset, faster it progresses, incidence is 1 in 22,000-29,000, risk factors include family history, unsteady gait, uncoordinated movements, ataxia, gets progressively worse, absent reflexes, in the legs, onset, age 25, abnormal speech, dysarthria, loss of coordination, balance, frequent falls, falling more than usual, decrease in vibration sense in lower limbs, muscle weakness, decreased muscle strength, independent of exercise, autosomal recessive inheritance, intellect is normal, degeneration of structures, in the cerebellum, spinal cord responsible, coordination, muscle movement, sensory functions, vision, particularly color vision, mildly affected, hearing loss occurs in, 10% of patients, symptoms generally begin in childhood, puberty, early symptoms include an unsteady gait, changes in speech, loss of reflexes, jerky eye movements, abnormal muscle control, tone lead to spinal changes, scoliosis, kyphoscoliosis, individuals, friedreich's ataxia, have hammer toe, high arches, heart disease, develops, progress into heart failure, death, result from heart failure, dysrhythmias, not respond to treatment, diabetes, develop in later stages, the disease, one-third of patients, following tests performed, ecg, genetic testing, the frataxin gene, x-ray, the chest, x-ray, the spine, electrophysiological studies, emg, electromyography, nerve conduction tests, muscle biopsy, x-ray, ct scan, mri, the head, motor nerve conduction velocity of greater than 40 m/s, absent sensory nerve action potential, hypertrophic cardiomyopathy, detectable in two-thirds of individuals, frda, diabetes occurs in 10% of individuals, frda, an additional 20%, have glucose intolerance, optic nerve atrophy, occurs in approximately 25% of individuals, frda, sensorineural hearing loss occurs in 10% of cases, frda includes psychological support, prostheses, walking aids, wheelchairs, physicial therapy, speech therapy, all important, maintaining an active lifestyle, orthopedic interventions, scoliosis, foot deformities necessary, treatment of associated cardiac disease, diabetes, help improve the quality, duration of life in individuals, frda, frda, progressive disorder causing significant problems in daily living, most patients, confined to a wheelchair, 15 years of disease onset, 95%, by age 45, lifespan is reduced, expected range is 21-69 years, loss of mobility, heart failure, heart disease, diabetes, muscle weakness, numbness, loss of coordination, loss of reflexes, symptoms of friedreich's ataxia occur, family history, the disorder, individuals, a family history of frda who intend, to have children should consider genetic counseling.