Clinical management of Friedreich's Ataxia: a report of two cases.

Abstract

Friedreich's ataxia (FDRA) is the most common autosomal recessive, early-onset ataxia. FDRA is a progressive neurodegenerative disease that mainly affects the posterior (dorsal) columns of the spinal cord resulting in sensory ataxia. It manifests in initial symptoms of poor coordination and gait disturbance. We present two cases, a brother (54 years old) and sister (56 years old), with FDRA that are chronically institutionalized for incomplete quadriplegia without spasticity. Gait and postural ataxia, cerebellar dysarthria, oculomotor dysfunction, musculoskeletal deformities, hearing impairment, hypertrophic cardiomyopathy, and diabetes mellitus are also present. Neurological examination reveals extensor plantar responses and diminished to absent tendon reflexes. Both are wheelchair bound, cannot perform daily tasks and need assistance. Although there is no cure that can alter the natural course of the disease physiotherapy, management of spasticity and neuropathic pain, symptomatic treatment of heart failure and diabetes and nursing care can grant the patients quality of life.