Autosomal Dominant Striatonigral Degeneration (AD SND) is a progressive neurodegenerative disorder that affects the central nervous system. It is characterized by the degeneration of certain regions of the brain, primarily the striatum and substantia nigra, leading to a wide range of motor and non-motor symptoms.
In AD SND, the condition is inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene from either parent will result in the development of the disorder. The inherited mutation affects the normal functioning of specific proteins involved in maintaining the health and functionality of neurons.
The symptoms of AD SND may include the gradual onset of Parkinsonism, such as tremors, stiffness, and bradykinesia (slowness of movement). Other motor symptoms may include postural instability, difficulty with coordination, and muscle rigidity. Non-motor symptoms can also be present, such as cognitive impairment, psychiatric disturbances, autonomic dysfunction, and sleep disorders.
Diagnosis of AD SND involves a thorough assessment of the individual's medical history, physical examination, and various diagnostic tests, including neuroimaging and genetic testing.
Though currently there is no cure for AD SND, treatment focuses on managing symptoms and improving the individual's quality of life. This may involve a combination of medications, physical therapy, speech therapy, and occupational therapy. Supportive care from a multidisciplinary team is often recommended to address the complex needs of affected individuals and their families.
Due to the progressive nature of AD SND, the prognosis varies for each individual, with the average life expectancy after symptom onset being around 5–15 years.
