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An expert discusses how Friedreich ataxia is an autosomal recessive neurodegenerative disorder caused by trinucleotide (GAA) repeat expansion in the FXN gene, reducing frataxin protein production. This leads to mitochondrial dysfunction and progressive damage to the spinal cord, peripheral nerves, and heart. Patients present with progressive ataxia, dysarthria, sensory loss, and areflexia, typically manifesting between ages 5 and 15. Diagnosis relies on clinical assessment, genetic testing for GAA expansions, and supportive findings, including cardiomyopathy, scoliosis, and diabetes.

An expert discusses the extended form of carbidopa/levodopa (Crexont) for managing OFF episodes, highlighting trial results that show decreased OFF time and increased ON time, as well as the use of subcutaneous loading of medications in Parkinson disease, which was well tolerated with skin issues as the main adverse effects and resulted in increased ON time without worsening dyskinesia.

Panelist discusses how treatment options for neurogenic bladder include pharmacological approaches such as anticholinergics, localized interventions such as botulinum toxin injections, and neuromodulation techniques (posterior tibial and sacral nerve stimulation). Surgery serves as a last resort when conservative treatments fail.

Panelist discusses how neurogenic bladder in neurological conditions manifests distinctly based on lesion location. Patients with multiple sclerosis typically experience detrusor overactivity and sphincter dyssynergia, leading to urgency and retention. Parkinson disease commonly presents with overactive bladder symptoms and nocturia due to impaired basal ganglia control. Cauda equina syndrome and lumbar disc herniation often result in detrusor areflexia and decreased sensation, causing retention and overflow incontinence.