What is a notable symptom of Pantothenate kinase-associated neurodegeneration (PKAN)?

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Dystonia is a notable symptom of Pantothenate kinase-associated neurodegeneration (PKAN). This condition is characterized primarily by movement disorders, with dystonia being a key feature. Dystonia refers to involuntary muscle contractions that cause twisting and repetitive movements, and it can significantly affect motor function and quality of life.

In PKAN, dystonia typically arises due to the degeneration of specific neurons in the basal ganglia, which are areas of the brain responsible for coordinating movement. This degeneration impairs muscle control and leads to the characteristic movements associated with the disorder.

While myopathy may occur in some genetic conditions, PKAN is more specifically associated with neurological symptoms rather than primary muscle weakness. Hearing loss can occur in various genetic syndromes, but it is not a hallmark feature of PKAN. Mental retardation, while present in some cases of neurodegenerative disorders, is not a defining characteristic of PKAN, which predominantly manifests with movement-related symptoms, particularly dystonia.

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