Yannis Dionyssiotis1,2, Athina Kapsokoulou3, Anna Danopoulou2, Maria Kokolaki4, Athina Vadalouka4. 1. 1Physical Medicine and Rehabilitation Department, European Interbalkan Medical Center, Thessaloniki, Greece. 2. Hospice for Neuro-disability (ASYLON ANIATON), Kypseli, Athens, Greece. 3. 3Department of Medicine, University of Patras, Rio Patras, Greece. 4. Hellenic Society of Pain Management and Palliative Care (PARH.SY.A.), Athens, Greece.
Abstract
INTRODUCTION: 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. CASE PRESENTATION: 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. DISCUSSION: 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.
INTRODUCTION: 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. CASE PRESENTATION: 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. DISCUSSION: 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.
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