Clinical Diagnosis of Friedreich's ataxia - Voices of Friedreich's Ataxia (FA)

The clinical diagnosis of FA is following
Ataxia is the most common presenting symptom in early and late-onset (loss of proprioception, absent reflexes).
Cardiac features include non-specific T-wave abnormalities on EKG observed in almost all individuals and many individuals with left ventricular hypertrophy.
Scoliosis is common at clinical presentation and pes cavus also presents early in the disease.
Family history – FA is autosomal recessive so often there is no other history of ataxia in the family.
Differential Diagnoses — inherited Vitamin E deficiency, CoQ10 Deficiency, ataxia with oculomotor apraxia, spinocerebellar ataxias, multiple sclerosis.

Clinical Diagnosis of Friedreich’s ataxia