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Friedreich's
ataxia (FA) (Diagnosis (History (DH
Meds, allergies,…
Friedreich's
ataxia (FA)
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Pathophysiology
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Mechanism
Degeneration of nerve tracts
Spinocerebellar: cerebellar ataxia, dysarthria
Corticospinal: weakness, wasting, loss of joint position and vibration sense
Peripheral nerve damage
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Diagnosis
History
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SH
Occupation, living arrangements,
smoking, alcohol, diet
PC/HPC
Progressive incoordination, weakness,
dysarthria, clumsiness
Examination
CN examination
Dysarthria, nystagmus
Limb examination
Muscle wasting, pes cavus
Motor: weakness, wasting
Sensory: reduced joint position and vibration sense
Reflexes: absent, extensor plantars
Investigations
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Bloods
FBC, U+E, LFT, glucose (DM)
Genetic tests (FA, AT, CMT)
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Management
Conservative
Information, advice, support
Regular monitoring
Manage comorbidities
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