Abstract :
Introduction: Friedreich Ataxia (FA) is an autosomal recessive inherited form of ataxia. Clinical
presentation includes cerebellar and sensory ataxia, associated with pyramidal signs, an absence of tendon
reflexes in the legs, deep sensory loss, and foot deformity.
Aims and Scope: To know the hospital-based incidence, epidemiological profile of FA. To know the
commonest mode of presentation. To watch for the complications. To observe its radiological features
along with electrophysiological properties.
Settings and Design: Prospective clinical study in the department of neurology of S.C.B Medical College,
Cuttack, Odisha, India. The study was done for 2 complete years.
Material and Methods: All patients who presented with clinical symptoms of FA with positive for allelic
mutation were included in the study. The patients were evaluated in detail by neuroimaging and other tests.
Brain and spinal cord MRI were done in all the patients followed by nerve conduction. Ethical approval
was obtained from institutional ethical committee.
Statistical analysis used: SPSS version 21.0
Results: Total numbers of patients were 12. Male to female ratio was 2:1. Most common presentation was
unsteadiness of gait and other cerebellar signs. 25% patients (3/12) had ejection fraction reduced. Optic
nerve atrophy was found in approximately 25% of individuals. Atrophy of the cervical spinal cord and
cerebellum were observed in 58% (7/12) cases in MRI.
Conclusions: FA is one of the commonest recessive ataxias of young people. It presents progressive ataxia
and large fibre neuropathy with multisystem involvement. Usually it has very bad prognosis with cardiac
complications.
Key Messages: FA is one of the common cause of genetic ataxia. It is a multisystem disease with
involvement of both central nervous system and peripheral nervous system. The knowledge of FA is
necessary for early diagnosis and genetic counselling.
Keyword :
Ataxia, myeloneuropathy, friedreich’s, frataxin