Friedreichs ataxia

Friedreichs ataxia - Epidemiology Friedreich's ataxia is...

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Friedreichs ataxia Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system, resulting in symptoms ranging from gait disturbance to speech problems; it can also lead to heart disease and diabetes. Symptoms Progressive stumbling gait/falls may be initial presentation. Cerebellar ataxia, dysarthria, nystagmus and dysdiadochokinesis (spinocerebellar tract) Weakness and increased plantars (corticospinal tract) Reduced tendon reflexes (peripheral nerve damage) Loss of positional and vibration sense (dorsal column) Pes cavus (high arches) Scoliosis May develop DM (~20%) Cardiomyopathy can cause CCF Causes Autosomal recessive inherited disorder with expansions of GAA nucleotide in the frataxin gene Causes degeneration of nerve tracts: spinocerebellar, corticospinal and dorsal columns Prevalence 1:50k, Male =Female, Initial presentation usually 5-15yrs, although late onset FA can occur in 20s and 30s.
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Unformatted text preview: Epidemiology Friedreich's ataxia is the most prevalent inherited ataxia, affecting about 1 in 50,000 people in the United States. Males and females are affected equally. The estimated carrier prevalence is 1:110. Diagnosis The diagnosis is perform by the patients symptoms and signs that can be elicited such as: • Cerebellar: Nystagmus, fast saccadic eye movements, truncal ataxia, dysarthria, dysmetria. • Pyramidal: absent deep tendon reflexes, extensor plantar responses, and distal weakness are commonly found. • Dorsal column: Loss of vibratory and proprioceptive sensation occurs. • Cardiac involvement occurs in 91% of patients, including cardiomegaly (up to dilated cardiomyopathy), symmetrical hypertrophy, heart murmurs, and conduction defects. Median age of death is 35 years, while females have better prognosis with a 20-year survival of 100% as compared to 63% in men....
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Friedreichs ataxia - Epidemiology Friedreich's ataxia is...

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