{"product_id":"2940154490709","title":"Friedreich Ataxia, A Simple Guide To The Condition, Diagnosis, Treatment And Related Conditions","description":"\u003cp\u003eFriedreich ataxia is a rare disease and the most frequent inherited ataxia.\u003cbr\u003eIt is a degenerative disorder that mainly affects the nervous system, muscles and the heart.\u003cbr\u003eIt is often linked with cardiomyopathy or diabetes\u003cbr\u003eThere is progressive ataxia (in-coordination of muscles), dysarthria, reduced proprioception, vibration sense and muscle weakness.\u003cbr\u003eThe inheritance is autosomal recessive.\u003cbr\u003eCause\u003cbr\u003eThe gene disorder is a mutation of the frataxin gene (FXN) on chromosome 9.\u003cbr\u003eMany patients (98%) have a GAA repeat expansion of the frataxin gene with the size of the expansion correlating with the severity of the disease\u003cbr\u003eMore infrequently there is a point mutation in one gene.\u003cbr\u003eThe mutation leads to reduced synthesis of frataxin, a mitochondrial protein.\u003cbr\u003eIts poor function leads to mitochondrial dysfunction and oxidative injury to cells\u003cbr\u003eThe cellular injury mainly involves the nervous system and the heart (for unknown reasons).\u003cbr\u003eThe sensory neurons affecting proprioception are involved early and severely so ataxia is an early feature of the disease.\u003cbr\u003eSymptoms\u003cbr\u003eFriedreich's ataxia is a progressive neurodegenerative disorder, normally with start before 20 years of age.\u003cbr\u003eSigns and symptoms are:\u003cbr\u003e1. Progressive ataxia,\u003cbr\u003e2. Ascending weakness and\u003cbr\u003e3. Ascending loss of vibration and joint position senses,\u003cbr\u003e4. Pes cavus,\u003cbr\u003e5. Scoliosis,\u003cbr\u003e6. Cardiomyopathy, and\u003cbr\u003e7. Cardiac arrhythmias\u003cbr\u003eSymptoms most often begin before puberty.\u003cbr\u003eSymptoms may include:\u003cbr\u003e1. Abnormal speech\u003cbr\u003e2. Changes in vision, particularly color vision\u003cbr\u003e3. Decrease in ability to feel vibrations in lower limbs\u003cbr\u003e4. Foot problems, such as hammer toe and high arches\u003cbr\u003e5. Hearing loss, this occurs in about 10% of people\u003cbr\u003e6. Jerky eye movements\u003cbr\u003e7. Loss of coordination and balance, which leads to frequent falls\u003cbr\u003e8. Muscle weakness\u003cbr\u003e9. No reflexes in the legs\u003cbr\u003e10. Unsteady gait and uncoordinated movements (ataxia), which gets worse with time\u003cbr\u003eMuscle disorders result in changes in the spine.\u003cbr\u003eThis may lead to scoliosis or kyphoscoliosis.\u003cbr\u003eHeart disease most often forms and may result in heart failure.\u003cbr\u003eDiagnostic investigations\u003cbr\u003e1. Nerve conduction studies show motor velocities \u0026gt;40 ms-1 in arms and absent sensory action potentials.\u003cbr\u003e2. Genetic analysis.\u003cbr\u003e3. ECG - there may be ventricular hypertrophy and T-wave inversion.\u003cbr\u003e4. Vitamin E deficiency is excluded.\u003cbr\u003eFurther investigations\u003cbr\u003e1. Blood tests: FBC, U\u0026amp;E and glucose\u003cbr\u003e2. Echocardiography may indicate ventricular hypertrophy, septal hypertrophy and hyper-trophic cardiomyopathy.\u003cbr\u003e3. MRI scan of the brain and spinal cord\u003cbr\u003eTreatment\u003cbr\u003eFriedreich ataxia is a disease with multi-system participation.\u003cbr\u003eAnnual reviews should have evaluation of:\u003cbr\u003e1. Neurology,\u003cbr\u003e2. Cardiac function,\u003cbr\u003e3. Musculoskeletal disorders,\u003cbr\u003e4. A comprehensive systems review and\u003cbr\u003e5. Blood tests (hematology and monitoring for diabetes).\u003cbr\u003eSupportive treatment\u003cbr\u003e1. Physiotherapy.\u003cbr\u003e2. Speech and language therapy.\u003cbr\u003e3. Occupational therapy.\u003cbr\u003eSystem Treatments:\u003cbr\u003e1. Treatment of cardiac failure and arrhythmias is using standard treatments.\u003cbr\u003e2. Orthopedic surgery if there are problematic symptoms from scoliosis, pes cavus or equinovarus deformity of feet.\u003cbr\u003e3. Foot deformities may also be assisted by botulinum toxin or splints.\u003cbr\u003e4. Passive exercises and warming are required for peripheral cyanosis and cold feet.\u003cbr\u003e5. Diabetes will normally require insulin.\u003cbr\u003e6. Sphincter dysfunction symptoms (e.g., urgency)\u003cbr\u003e7. Urodynamic assessment and treatments\u003cbr\u003e8. Sexual dysfunction may need symptomatic treatment.\u003cbr\u003e9. Counseling or antidepressants for depression\u003cbr\u003eTreatment for Friedreich ataxia is:\u003cbr\u003e1. Counseling\u003cbr\u003e2. Speech therapy\u003cbr\u003e3. Physical therapy\u003cbr\u003e4. Walking aids or wheelchairs\u003cbr\u003e5. Idebenone and interferon-gamma medical treatment\u003c\/p\u003e\u003cp\u003eTABLE OF CONTENT\u003cbr\u003eIntroduction\u003cbr\u003eChapter 1 Friedreich Ataxia\u003cbr\u003eChapter 2 Causes\u003cbr\u003eChapter 3 Symptoms\u003cbr\u003eChapter 4 Diagnosis\u003cbr\u003eChapter 5 Treatment\u003cbr\u003eChapter 6 Prognosis\u003cbr\u003eChapter 7 Aphasia\u003cbr\u003eChapter 8 Achalasia\u003cbr\u003eEpilogue\u003c\/p\u003e","brand":"Kenneth Kee","offers":[{"title":"Default Title","offer_id":47074859319536,"sku":"2940154490709","price":2.99,"currency_code":"USD","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0737\/7593\/9824\/files\/2940154490709_p0.jpg?v=1764067824","url":"https:\/\/shop-qa.barnesandnoble.com\/products\/2940154490709","provider":"Barnes \u0026 Noble (DEV)","version":"1.0","type":"link"}