Early onset Friedreich Ataxia without cardiomyopathy

O. Rujan, I. BURAGA, A. Enachi, I. Ionescu, C. Baetu; Bucharest/RO; (Poster POD163) EAN Congress 2017 in Amsterdam

There is a very important clinical distinction between classic FA and its variants, which consists in the absence of kyphoscoliosis and heart disease (a frequent component) which gives the latter group a better prognosis. Our case shows that an early onset of FA doesn’t necessarily mean the patient will develop cardiomyopathy.
Our patient is a 25 year old female whose symptoms were onset at the age of 3 years old and consisted of ataxia of gait, difficulties in standing steadily and in running. The clinical features progressed slowly and now she presents: gait and limb ataxia, the lower limb reflexes are preserved, Romberg sign is present, a rhythmic tremor of the head and upper limbs (more visible during emotional stress), horizontal nystagmus, the speech is slow, slurred and explosive, pes cavus and hammertoes.

This case has some particularities: the early onset of the symptoms, a very slow progression, the preserved lower limb reflexes and the absence of cardiomyopathy.

Early onset Friedreich Ataxia without cardiomyopathy