Machado Joseph Disease Type II, also known as Spinocerebellar Ataxia Type 3 (SCA3), is a rare genetic neurodegenerative disorder characterized by the progressive degeneration of certain areas of the brain, particularly the cerebellum. In this condition, there is a mutation in the ATXN3 gene on chromosome 14, resulting in an abnormal expansion of a repeated trinucleotide sequence (CAG) within the gene.
Individuals affected by Machado Joseph Disease Type II typically begin to show symptoms in adulthood, usually between the ages of 30 and 40. The most common presenting feature is ataxia, which is the lack of voluntary muscle control leading to coordination and balance problems. As the disease progresses, individuals may also experience a range of symptoms such as muscle stiffness, difficulty swallowing and speaking (dysphagia and dysarthria), weakness in the limbs, involuntary eye movements (oculomotor abnormalities), and sensory abnormalities.
As a neurodegenerative disorder, Machado Joseph Disease Type II is characterized by the gradual loss of neurons in areas of the brain involved in movement coordination. This can result in progressive disability and functional impairment, affecting the individual's daily activities and quality of life. Currently, there is no cure for Machado Joseph Disease Type II, and treatment focuses on managing and alleviating symptoms. Physical and occupational therapy may be beneficial in maintaining mobility and independence, while medications can help manage specific symptoms such as muscle stiffness or depression.
In summary, Machado Joseph Disease Type II is a hereditary neurodegenerative disorder that leads to the progressive degeneration of the cerebellum and other areas of the brain. It is characterized by ataxia and a range of other symptoms that can affect
